Advanced Therapy in Gastroenterology and Liver Disease - part 7 pptx

Porter used needle electromyographyand noted excessive reflex inhibition in prolapse patients.Recently, it has been demonstrated that patients with rec-tal prolapse have a thickened inte

Fecal Incontinence: Evaluation and Treatment / 515

recently reported excellent results; at a median of 2 years,

73% of previously incapacitated patients achieved full

con-tinence; symptoms markedly improved for the others

Unlike the neosphincter procedures, SNS has been

associ-ated with minimal morbidity This fact suggests that

indi-cations for the procedure might reasonably be broadened,

at least on an investigational basis, in the future

Radiofrequency Energy Delivery Submucosal

radiofre-quency energy delivery to the anal canal (also known as the

Secca procedure) is a thermal technique currently under

investigation in a multicenter trial The procedure consists

of anal insertion of a heat-controlled probe The probe

then deploys electrodes that pierce the mucosa and heat

the muscularis, resulting in collagen contraction However,

the exact mechanism of action using this technique is

unknown Early results have shown modest improvement

in incontinence severity

Anal Canal Bulking and Obstructing Agents In contrast

to stool bulking agents, anal canal bulking agents are made

of implanted natural or synthetic materials, such as

colla-gen, silicone, or carbon coated beads, that are injected into

the intersphincteric space to bolster function of the

inter-nal ainter-nal sphincter We do not perform this procedure,

although good outcomes in very small series have been

reported Obstructing agents, such as pliable rubber

bal-loons, are placed in the anus; they can be removed by the

patient for controlled defecation (Norton and Kamm,

2001; Mortensen and Humphreys, 1991) Such an vention might be useful for patients who are at very poorrisk for surgery

inter-Stoma For patients with refractory incontinence, a

properly placed and well-constructed stoma offersrestoration of bowel control (if not true continence) withminimal associated morbidity Although the presence of

a stoma admittedly distorts an individual’s body image,this disadvantage is usually outweighed by the patient’senhanced ability to function normally (or nearly so) insocial, work, and sexual situations without fear of loss ofbowel control

SummaryFecal incontinence is a prevalent and frustrating problemthat has a profound impact on physical and psychologicalwell-being Appropriate care relies on systematic evalua-tion and application of a tailored treatment plan Figure88-3 presents a systematic algorithm for care of patientswith persistent fecal incontinence Although we championthe methodical approach, we frequently encourage a com-bined treatment plan, such as medical optimization,biofeedback, and sphincteroplasty, depending on the needsand abilities of individual patients Broad adaptation of astandardized pre- and postintervention evaluation systemwill enhance the individual patient’s experience and ourunderstanding of treatment effectiveness

FIGURE 88-2 Radiograph of an implanted sacral nerve stimulator device Courtesy of Robert D Madoff, MD.

Fecal Incontinence: Evaluation and Treatment / 517

Parker SC, Morris AM, Thorson AJ New developments in anal

surgery: incontinence Seminars in Colon & Rectal Surgery

2003;14:82–92.

Parker SC, Spencer MP, Madoff RD, et al Artificial bowel

sphincter: long-term experience at a single institution Dis

Colon Rectum 2003;46:722–9.

Ro c k wo o d T H , C h u rch J M , F l e s h m a n J W, e t a l Fe c a l

Incontinence Quality of Life Scale: quality of life instrument

for patients with fecal incontinence Dis Colon Rectum

2000;43:9–16; discussion 16–7.

Shelton AA, Madoff RD Defining anal incontinence: establishing

a uniform continence scale Seminars in Colon & Rectal Surgery 1997;8:54–60.

Whitehead WE, Norton NJ, Wald A Introduction Advancing the treatment of fecal and urinary incontinence through research Gastroenterology 2004;126(1 Suppl 1):S1–2.

Wong WD, Congilosi SM, Spencer MP, et al The safety and efficacy of the artificial bowel sphincter for fecal incontinence: results from a multicenter cohort study Dis Colon Rectum 2002;45:1139–53.

CHAPTER 89

Brodén and Snellman (1968) used defecography andcould demonstrate that rectal prolapse starts as an inter-nal rectal intussusception They demonstrated that rectalprolapse starts as anorectal intussusception 6 to 8 cm up

in the rectum and as the patient strains, the tion progresses and extends down through the rectum andout through the anus

intussuscep-The underlying mechanism for the rectum to prolapseremains unclear A mobile rectum, a weak pelvic floor, andexcessive straining at stool, all predispose for development

of rectal prolapse Lack of rectal support is of etiologicalimportance, but rectal prolapse also develops in young menand in nulliparous women with normal pelvic floor andanal sphincter function

Symptoms

Rectal prolapse is a full-thickness, circumferential susception of the entire rectal wall through the anal canaland anus The prolapsing bowel itself, mucosanguineousdischarge, bleeding, constipation and/or incontinence, and

intus-a feeling of incomplete evintus-acuintus-ation, intus-are the most frequent

complaints The incidence of preoperative incontinence

and constipation has only been reported prospectively in

a few studies and definitions vary Allen-Mersh and leagues (1990) studied 57 patients with rectal prolapseprospectively and found fecal incontinence symptoms in49% and constipation symptoms in 30% of the patients.Madden and colleagues (1992) reported some degree ofanal incontinence in 17 of 23 patients (74%) and consti-pation in 11 (48%) of their patients In another prospec-tive study, Huber and colleagues (1995) included 42patients, 5 of whom had internal rectal intussusception.They found fecal incontinence in 54% and some degree ofconstipation in 44% of the patients

col-The underlying mechanism for incontinence symptoms

in approximately 50% of patients with rectal prolapse isnot fully understood Porter used needle electromyographyand noted excessive reflex inhibition in prolapse patients.Recently, it has been demonstrated that patients with rec-tal prolapse have a thickened internal anal sphincter at

Rectal Prolapse

The word prolapse comes from the Latin term ”prolapsus”

and means “falling down.” Rectal prolapse was described

in 1500 BC in the Ebers papyrus, and Mr Frederick

Salmon, the founder of the famous St Marks Hospital in

London, wrote his classic article “Practical observations on

prolapsus of the rectum” in 1831

Rectal prolapse is a benign disorder that is frequently

associated with disturbed bowel function Rectal prolapse

can be treated surgically by many different techniques and

results regarding recurrence rate and mortality are

gener-ally good Unfortunately, anal incontinence and/or

consti-pation sometimes continue to bother the patients after

otherwise successful correction of the prolapse

Epidemiology

Rectal prolapse is most commonly found in elderly and the

peak incidence is found after the fifth decade Being female

is one of the highest risk factors for development of rectal

prolapse and women represent approximately 90% of the

patient population Rectal prolapse in elderly women is

fre-quently accompanied with poor sphincter function and

fecal incontinence In the rather few younger women with

rectal prolapse, continence function is frequently preserved

A background history of lifelong straining is common in

these patients Rectal prolapse is sometimes associated with

underlying psychiatric illness

Etiology

There are two theories regarding development of rectal

prolapse Moschowitz proposed in 1912 that rectal

pro-lapse is a sliding hernia that protrudes through a defect in

the pelvic floor He found that patients with rectal prolapse

have a deep cul-de-sac, which he believed resulted from

herniation of the small intestine into the anterior wall of

the rectum He suggested that the herniation pushed the

rectum down, resulting in rectal prolapse This idea is

sup-ported by the finding of a deep cul-de-sac in many

pro-lapse patients

Rectal Prolapse, Rectal Intussusception, and Solitary Rectal Ulcer Syndrome / 519

endo-anal ultrasound (Marshall et al, 2002) Several

mech-anisms have been proposed to explain prolapse-associated

incontinence These include direct sphincter trauma caused

by repeated stretching by the intussuscepting rectum or

that the intussuscepting rectum leads to chronic

stimula-tion of the rectoanal inhibitory reflex Constipastimula-tion,

defined either as abnormally few stools per week or

increased straining at stool may be explained by the

pres-ence of the intussuscepting bowel in the rectum, colonic

dysmotility or inappropriate puborectalis contraction

Preoperative Evaluation

Verification of the rectal prolapse and differentiating it from

hemorrhoids and/or mucosal prolapse is usually the first

step in the examination of patients with a history

sugges-tive of rectal prolapse Rectal prolapse is identified as a

cir-cular, full-thickness prolapse extending outside the anal

verge when the patient strains Occasionally the patient is

unable to reproduce their prolapse at clinical examination

in the left lateral position Examination in the sitting

posi-tion on a commode or diagnosis using defecography may

then be quite helpful (Mellgren et al, 1994)

The patient history should include preoperative

con-stipation and incontinence symptoms, bowel frequency,

obstetric history, and other associated pelvic floor

disor-ders, such as co-existing urinary incontinence or genital

prolapse Patients with rectal prolapse are at an increased

risk for other concomitant pelvic floor abnormalities

The clinical examination includes inspection of the

per-ineum Digital examination will assess the resting and

squeeze tones of the anal sphincters Proctoscopy or

endoscopy will frequently reveal an area of mild erythema

within the lower rectum Sometimes a solitary rectal ulcer

will be found in the mid-rectum This may sometimes be

difficult to distinguish from a polyp or tumor, and

biop-sies may therefore be needed Evaluation of the

remain-ing colon is encouraged, to exclude any coexistremain-ing

colorectal pathology, particularly cancer Solitary rectal ulcer

syndrome (SRUS) is discussed later in this chapter.

Colon transit studies, anorectal manometry, pudendal

latencies and endo-anal ultrasound may also be used in the

examination of prolapse patients, but they are usually not

essential for the preoperative assessment

Surgical Therapy

Rectal prolapse in children is generally treated

conserva-tively, whereas surgical repair is suggested for adults In

1912, Moschcowitz presented his theory that rectal

pro-lapse is a sliding hernia and he suggested obliteration of

the deep cul-de-sac of Douglas as treatment, but this

method had a high recurrence rate

Today both abdominal and perineal approaches are

used Abdominal approaches include different types of

rectal suspension and fixation and they usually have lowrecurrence rates (Table 89-1) Perineal approaches havehigher recurrence rates and they are usually reserved forelderly patients or patients with concomitant healthproblems

Abdominal Rectal Prolapse Repair

Most authors advocate complete posterior mobilization ofthe rectum to the coccyx, and some recommend partialanterior mobilization as well The extent of lateral mobi-lization has been debated and there is little data reported

in the literature It has been found in patients undergoingposterior mesh rectopexy for prolapse that division of lat-eral ligaments may contribute to the development of onsetconstipation A marked increase of constipation has beenfound in patients who had undergone Wells rectopexy withdivision of lateral ligaments, when they were compared

TABLE 89-1 Recurrence Rates After Treatment of Rectal Prolapse

Abdominal Procedures Ripstein

520 / Advanced Therapy in Gastroenterology and Liver Disease

with patients who had undergone Ripstein’s operation with

the lateral ligaments preserved Preservation of the lateral

ligaments may therefore be recommended

Ripstein Rectopexy

After mobilization, the rectum is usually suspended to the

sacrum, but the optimal technique for this suspension is

still debated Ripstein (1965) described a repair based on

the theory that prolapse is caused by rectal attachment to

the sacrum This repair has been used extensively in the

United States

The rectopexy is performed by suturing an

approxi-mately 5 cm wide piece of mesh to the sacrum The mesh

is wrapped around and sutured to the anterior wall of the

rectum The wrap should be loose enough to avoid

stric-turing of the rectum

The Ripstein rectopexy has sometimes been accused of

causing obstructed defecation, but early reports of

post-operative constipation following this procedure were not

controlled for preoperative symptoms However, the

tech-nique includes a risk for infection and fistula formation

because of the circular mesh and the recurrence rate, and

functional outcome does not differ from other techniques

Its popularity has therefore decreased

Wells’ Rectopexy

The Ivalon sponge procedure is similar to the Ripstein

pro-cedure, but the mesh is placed partially around the bowel

instead of circumferentially This technique was

popular-ized because of concerns over sling obstruction with a

cir-cumferential mesh

The technique was described by Wells in 1959 Wells

based his procedure on the use of a polyvinyl alcohol

sponge (Ivalon) with its tendency to create a reactive

fibrotic response It is, however, unclear whether this

reac-tive response is needed, as techniques such as suture

rec-topexy seem to offer the same low recurrence rates as the

Wells’ procedure

Suture Rectopexy

Direct suture rectopexy was first advocated by Cutait in

1959 The suture rectopexy is used as a temporary

sus-pension of the rectum while adhesions form between the

rectum and the presacral fascia This technique has gained

renewed interest after the introduction of laparoscopic

surgery (see below) After mobilization, the rectum is

sus-pended to the sacrum with 2 to 4 sutures that are anchored

in the mesorectum and the presacral fascia

Suture rectopexy seems to offer similar recurrence and

complication rates as techniques involving mesh Suture

rectopexy is therefore an attractive alternative and it may

also be used together with simultaneous sigmoid resection

(see below) because no foreign material is used

Resection Rectopexy

Another topic of debate is whether the redundant sigmoidcolon should or should not be resected at suture rectopexy.When Frykman and Goldberg (1969) described resectionrectopexy, the original rationale of the resection was to sus-pend the left colon from the splenic flexure to preventrecurrence

It is apparent today that this is not needed when the lowrecurrence rates in most series evaluating abdominal pro-lapse repair On the other hand, the use of resection maydecrease the risk for postoperative constipation symptoms

A higher rate of new or persisting constipation has beenreported in three additional trials in patients treated withsling rectopexy alone versus those treated with suture rec-topexy and sigmoid resection

Sometimes patients are not relieved of preexisting stipation despite a sigmoid resection at the time of rec-topexy and on occasion subtotal colectomy with rectopexymay be the appropriate surgical method for carefullyselected patients with severe slow transit constipation(Madoff et al, 1992) The risk for postoperative fecal incon-tinence may however be substantial, as many of thesepatients will have loose stools postoperatively

con-Anterior Resection

Schlinkert and colleagues (1985) have reported the MayoClinic experience with anterior resection as therapy for rec-tal prolapse and found an acceptable recurrence rate (9%).They found that a low anastomosis increased morbiditywithout significantly decreasing recurrence when com-pared with high anterior resection The effects of repair onpatient continence were unpredictable

Laparoscopic Prolapse Repair

Laparoscopic abdominal repair represents a new ment in rectal prolapse surgery Laparoscopy offersimproved patient comfort, better cosmetic result, anddecreased lengths of hospital stay and disability (Solomonand Eyers, 1996; Kellokumpu et al, 2000) and most of theprocedures described above may be performed with thistechnique In two recent studies (Heah et al, 2000; Zittel et

develop-al, 2000), it was reported that functional outcome afterlaparoscopic rectopexy was comparable with open surgery

Perineal Rectal Prolapse Repair

Perineal prolapse repair is usually reserved for elderlypatients or patients with concomitant health problems,because the recurrence rate is substantially higher The recur-rence rates in different series range from 5 to more than 50%(Williams et al, 1992; Senapati et al, 1994; Tsunoda et al,2003; Watkins et al, 2003; Frykman and Goldberg, 1969) andthere is a tendency that series with longer follow-up time

position The submucosa above the dentate line is injectedwith an epinephrine solution where after the rectal mucosa

on the external side of the prolapse is dissected free fromthe underlying muscle The rectal muscle is then verticallyplicated in all four quadrants, usually by using eight pli-cating sutures As these sutures are tied, the muscle is pli-cated, and the excess mucosa is then excised and themucosa is closed with a mucosa-to-mucosa closure.Functional Outcome After Rectal

Prolapse SurgerySeveral attempts have been made to predict postoperativeoutcome with physiologic testing Preoperative manome-try results have generally not been predictive of the func-tional outcome regarding continence, though patients withvery severe physiologic abnormalities may have a worseprognosis (Williams et al, 1992; Yoshioka et al, 1989)

A majority of studies report that approximately 50% ofincontinent patients improve after surgery Restoration ofinternal anal sphincter function plays probably an impor-tant role in this process, as improved continence aftersurgery is often accompanied by increased resting pressures(Schultz et al, 1996) The removal of the prolapsing mayalso be an important reason, as the prolapse disturbs thesphincter function by repetitive sphincter dilatation Otherimportant factors may be postoperative improvements inanal sphincter electomyogram and improved sensation(Duthie, 1992)

The frequency of postoperative constipation variesgreatly between studies Some studies report increased inci-dence (Graf et al, 1996; Aitola et al, 1999), whereas othersreport an unchanged (Tjandra et al, 1993), or decreased(Roberts et al, 1988; Winde et al, 1993) incidence Possiblereasons for postoperative constipation include colonic den-ervation, rectal denervation by division of the lateral liga-ments, or a redundant sigmoid that may contribute torectosigmoid kinking

Rectal Intussusception

Internal rectal intussusception is sometimes labeled “occultrectal prolapse” as the conditions are quite similar atdefecography, with the only difference that rectal intus-susception does not extend beyond the anal verge.Internal intussusception is associated with several dif-ferent functional complaints Johansson and colleagues(1985) examined 190 patients with rectal intussusceptionand found that 57% of patients experienced a sensation ofobstruction, 44% had fecal incontinence, 43% had painfuldefecations, and 27% had anal bleeding Mucous dischargeand diarrhea have also been reported

The most common symptom associated with internalintussusception is, thus, obstructed defecation This can be

Rectal Prolapse, Rectal Intussusception, and Solitary Rectal Ulcer Syndrome / 521

have higher recurrence rates In a recent study from our

insti-tution (Kim et al, 1999), perineal rectosigmoidectomy had

a recurrence rate of 16% compared with 5% after rectopexy

Functional outcomes were similar following either

opera-tion The results suggest that perineal rectosigmoidectomy

may not be the ideal operation for healthy patients due to

its relatively high recurrence rate

Most authors currently favor either perineal

rectosig-moidectomy or Delorme’s operation and the choice

between these two types of procedures usually depends

upon individual surgeon training and preference Series

comparing different perineal operations are rare

Perineal procedures are well tolerated by most patients

The postoperative course is usually benign and most

patients tolerate the procedure quite well and the

postop-erative stay is usually short

Perineal Rectosigmoidectomy

Perineal rectosigmoidectomy was first described by

Mikulicz in 1889 Renewed interest in this procedure,

par-ticularly in the United States, can be attributed to W.A

Altemeier, whose 1971 report claimed only 3 recurrences

in a series of 106 patients A few series have recurrence rates

comparable to those seen after abdominal repairs, but

sev-eral reports have considerably higher recurrence rates The

variability in results reported by different centers stands in

contrast to the marked uniformity and predictability of

success seen after abdominal repairs

Perineal rectosigmoidectomy can be done under

regional or regional anesthesia in the lithotomy or prone

position The rectum is externalized as far as possible, and

an incision is made approximately 1 to 2 cm from the

den-tate line The incision is made full thickness through the

outer bowel wall, entering the space between the external

and internal bowel tubes of the prolapsed rectum The

rec-tal and sigmoid mesenteric vessels are divided with

liga-tures or using a harmonic scalpel and the prolapsed

segment of rectum is folded down as far as possible

Resection of 20 to 40 cm of rectum and sigmoid colon is

not uncommon After mobilizing the maximum length of

bowel, the prolapsed segment is resected and an

anasto-mosis is sutured

Addition of a levatoroplasty to the procedure might

influence recurrence rates by tightening the levator hiatus

and providing a new anorectal angle that contrasts with

the “straight” rectal contour typically seen in prolapse

patients (Williams et al, 1992; Agachan et al, 1997)

Delorme’s Operation

Delorme described an alternative perineal repair and the

method was popularized after the report of Uhlig and

Sullivan (1979) This procedure can also be done under

regional or regional anesthesia in the lithotomy or prone

522 / Advanced Therapy in Gastroenterology and Liver Disease

explained by several mechanisms The intussusception,

sometimes together with a concomitant enterocele and/or

rectocele, may restrict emptying or produce a sensation

of rectal fullness The intussuscepting bowel, present in the

rectum, may be experienced by the patient as fecal

mater-ial that cannot be expelled Continued straining will then

increase the size of the intussusception and further worsen

symptoms

The association between the internal rectal

intussus-ception and the above-mentioned symptoms remains

unclear Surgical correction of the anatomical

intussus-ception does not always alleviate symptoms and rectal

intussusception is a frequent finding in patients with

defe-cation disorders In an evaluation of 2,816 defecography

investigations, we found that 31% of the patients had a

cir-cumferential rectal intussusception (Mellgren et al, 1994)

Rectal intussusception has also been reported to be a

fre-quent finding in defecography studies of healthy

volun-teers (Shorvon et al, 1989; Goei, 1990)

Diagnosis

Rectal intussusception is usually diagnosed at defecography

as a circumferential infolding of the rectal wall that does

not pass beyond the anal verge However, at rectal

exami-nation the intussusception may be palpated or inspected

with a proctoscope A distal proctitis or a solitary ulcer may

also be seen

Treatment

Patients with internal rectal intussusception have often a

long history of anorectal problems and they have consulted

several physicians After establishing the diagnosis,

man-agement is usually conservative Patients are informed

about the condition and they are advised to avoid

strain-ing at stool, as this may increase symptoms Bulkstrain-ing agents

may be beneficial and, sometimes, small enemas may

facil-itate rectal emptying

Indications for surgical treatment vary in different

stud-ies, as do the surgical results Unfortunately most published

studies are retrospective and they include relatively small

numbers of patients Fecal incontinence in patients with

rectal intussusception is an indication for surgical ment and most studies (Table 89-2) report improved post-operative anal continence Outlet obstruction is oftenunchanged or may even deteriorate after surgery (see Table89-2), and patients should be counseled regarding thisbefore surgical treatment However the effect on outletobstruction is unpredictable and some patients improveafter rectopexy (Schultz et al, 1998)

treat-As mentioned, rectal intussusception and rectal lapse are quite similar at defecography, with the only dif-ference being that rectal intussusception does not extendbeyond the anal verge Sometimes the risk for developingrectal prolapse is used as a surgical indication in patientswith rectal intussusception This risk seemed however to

pro-be quite limited, when we followed rectal intussusceptionpatients over time (Mellgren et al, 1997)

SRUS

SRUS is a proctologic disease characterized by erythema

and/or one or several ulcerations of the rectal wall It is abenign condition with a characteristic histologic picture,and patients usually have associated disordered defecation.The ulcer is usually located anteriorly in the rectum, andinstead of an ulcer, the lesion may also be polypoid.The histologic characteristics of the lesion were firstdescribed by Madigan and Morson in 1969 and theyinclude a thickened muscularis mucosa, a lamina propriaexpanded by fibroblasts, and smooth muscle cells arranged

to point towards the lumen Colitis cystica profunda is aform of the SRUS, with dilated displaced glands filled withmucus and lined with normal colonic epithelium in thesubmucosa Frequently the lesion at SRUS can be difficult

to distinguish from adenomateus polyps or tumors, andbiopsies are therefore essential to verify the diagnosis.The etiology of SRUS remains obscure and patients fre-quently have concomitant pelvic floor disorders There is anassociation between SRUS, rectal prolapse, internal rectalintussusception, paradoxical sphincter reaction (PSR), andoutlet obstruction The symptoms are similar and the con-ditions sometimes coexist, but the relationship between thesedisorders is not fully understood, as all can exist alone

TABLE 89-2 Treatment Results of Rectal Intussusception

Allen-Mersh TG, Turner MJ, Mann CV Effect of abdominal Ivalon rectopexy on bowel habit and rectal wall Dis Colon Rectum 1990;33:550–3.

Binnie NR, Papachrysostomou M, Clare N, Smith AN Solitary rectal ulcer: the place of biofeedback and surgery in the treatment of the syndrome World J Surg 1992;16:836–40 Brodén B, Snellman B Procidentia of the rectum studied with cineradiography: a contribution to the discussion of causative mechanism Dis Colon Rectum 1968;11:330–47.

Cutait D Sacro-promontory fixation of the rectum for complete rectal prolapse Proc R Soc Med 1959;52:105.

Delorme E On the treatment of total prolapse of the rectum by excision of the rectal mucus membranes or recto-colic Dis Colon Rectum 1985;28:544–53.

Frykman HM, Goldberg SM The surgical treatment of rectal procidentia Surg Gynecol Obstet 1969;129:1225–30 Goei R Anorectal function in patients with defecation disorders and asymptomatic subjects: evaluation with defecography Radiology 1990;174:121–3.

Heah SM, Hartley JE, Hurley J, et al Laparoscopic suture rectopexy without resection is effective treatment for full- thickness rectal prolapse Dis Colon Rectum 2000;43:638–43 Huber FT, Stein H, Siewer t JR Functional results after treatment of rectal prolapse with rectopexy and sigmoid resection W J Surg 1995;19:138–43.

Johansson C, Ihre T, Ahlbäck SO Disturbances in the defecation mechanism with special reference to intussusception of the rectum (internal procidentia) Dis Colon Rectum 1985;28:920–4 Keighley MRB, Shouler PJ Clinical and manometric features of the solitary rectal ulcer syndrome Dis Colon Rectum 1984;27:507–12.

Kellokumpu IH, Vironen J, Scheinin T Laparoscopic repair of rectal prolapse: a prospective study evaluating surgical outcome and changes in symptoms and bowel function Surg Endosc 2000;14:634–40.

Kim DS, Tsang CB, Wong WD, et al Complete rectal prolapse: evolution of management and results Dis Colon Rectum 1999;42:460–6; discussion 466–9.

Madden MV, Kamm MA, Nicholls RJ, et al Abdominal rectopexy for complete prolapse: prospective study evaluating changes

in symptoms and anorectal function Dis Colon Rectum 1992;35:48–55.

Madigan MR, Morson BC Solitary ulcer of the rectum Gut 1969;10:871–81.

Ma do f f R D, Wi l l i a m s J G , Wo n g W D, e t a l Lo n g - te r m functional results of colon resection and rectopexy for overt rectal prolapse Am J Gastroenterol 1992;87:101–4.

Marchal F, Bresler L, Brunaud L, et al Solitary rectal ulcer syndrome: a series of 13 patients operated with a mean follow-

up of 4.5 years Int J Colorectal Dis 2001;16:228–33 Marshall M, Halligan S, Fotheringham T, et al Predictive value

of internal anal sphincter thickness for diagnosis of rectal intussusception in patients with solitary rectal ulcer syndrome.

Br J Surg 2002;89:1281–5.

Mellgren A, Bremmer S, Johansson C, et al Defecography, results

of investigations in 2,816 patients Dis Colon Rectum 1994;37:1133–41.

Mellgren A, Schultz I, Johansson C, Dolk A Internal rectal intussusception seldom develops into rectal prolapse Dis Colon Rectum 1997.[In press].

Excessive straining causing trauma and ischemia of the

prolapsed mucosa is probably one of the pathogenetic

fac-tors and self-digitation has also been discussed as a

possi-ble causative factor (Rutter and Riddell, 1975)

Symptoms

SRUS affects both men and women, usually with onset

before the age of 50 years Typical symptoms include

evac-uation difficulties with prolonged straining at bowel

move-ments, passage of blood and mucous per rectum, tenesmus,

and, sometimes, anorectal pain Digitation for evacuation

of feces is considered to be common SRUS may, however,

also be found in asymptomatic patients

Treatment

Nonsurgical options are usually preferred as initial

treat-ment (Vaizey et al, 1997) Retraining of bowel habits,

decrease of straining efforts, and a high fiber diet, is

gen-erally recommended Biofeedback-training might be

help-ful, especially if the patient has PSR (Binnie et al, 1992)

Abdominal rectopexy offers long term symptom

improve-ment in approximately 50% of patients (Vaizey et al, 1998)

Rectal ulceration may persist after any treatment, even if

symptoms improve

Surgery is frequently recommended when SRUS is

accompanied by rectal intussusception or rectal prolapse

Reports on surgical outcome are, however, usually based

on small series with limited follow-up time Successful

out-come has been reported after Ripstein rectopexy in 9 of 10

patients with concomitant rectal prolapse (Schweiger and

Alexander-Williams, 1977), after posterior rectopexy with

Marlex mesh in 5 of 6 patients with rectal prolapse

(Keighley and Shouler, 1984), and after Wells’ posterior

topexy in 17 of 17 patients with concomitant internal

rec-tal intussusception Other reports have not found the same

excellent results Marchal and colleagues (2001) reviewed

13 patients operated on for SRUS with a mean FU of 57

months The authors operated with various techniques and

they found a high failure rate after surgery They

there-fore recommend surgical therapy only in patients with total

rectal prolapse or intractable symptoms

Editor’s Note: A complete 110-item bibliography is available at

<mellgren@umn.edu>.

Supplemental Reading

Agachan F, Reissman P, Pfeifer J, et al Comparison of three

perineal procedures for the treatment of rectal prolapse South

Med J 1997;90:925–32.

Aitola PT, Hiltunen KM, Matikainen MJ Functional results of

operative treatment of rectal prolapse over an 11-year period:

emphasis on transabdominal approach Dis Colon Rectum

1999;42:655–60.

Rectal Prolapse, Rectal Intussusception, and Solitary Rectal Ulcer Syndrome / 523

524 / Advanced Therapy in Gastroenterology and Liver Disease

Plusa SM, Charig JA, Balaji V, Watts A Physiological changes after

Delorme’s procedure for full-thickness rectal prolapse Br J

Surg 1995;82:1475–8.

Porter NH A physiological study of the pelvic floor in rectal

prolapse Ann R Coll Surg Engl 1962;31:379–404.

Ripstein CB Surgical care of massive rectal prolapse Dis Colon

Rectum 1965;8:34–8.

Roberts PL, Schoetz DJ, Coller JA, Veidenheimer MC Ripstein

procedure Lahey Clinic experience: 1963–1985 Arch Surg

1988;123:554–7.

Rutter KRP, Riddell RH The solitary ulcer syndrome of the

rectum Clin Gastroenterol 1975;4:505–30.

Schlinkert RT, Beart RW, Wolf BG, Pemberton JH Anterior

resection for complete rectal prolapse Dis Colon Rectum

1985;28:409–12.

Schultz I, Mellgren A, Johansson C, et al Continence is improved

after the Ripstein rectopexy Different mechanisms in patients

with rectal prolapse and rectal intussusception? Dis Colon

Rectum 1996;39:300–5.

S ch u l t z I , Me l l g re n A , Ni l s s o n B Y, e t a l Pre o p e r a t ive

electrophysiologic assessment cannot predict continence after

rectopexy Dis Colon Rectum 1998;41:1392–8.

Schweiger M, Alexander-Williams J Solitary ulcer of the rectum.

It s a s s o c i a t i o n w i t h o cc u l t re c t a l p ro l a p s e L a n ce t

1977;1:170–1.

Senapati A, Nicholls RJ, Thomson JPS, Phillips RKS Results of

Delorme’s procedure for rectal prolapse Dis Colon Rectum

Tjandra JJ, Fazio VW, Church JM, et al Ripstein procedure is an effective treatment for rectal prolapse without constipation Dis Colon Rectum 1993;36:501–7.

Tsunoda A, Yasuda N, Yokoyama N, et al Delorme’s procedure for rectal prolapse: clinical and physiological analysis Dis Colon Rectum 2003;46:1260–5.

Uhlig BE, Sullivan ES The modified Delorme operation: its place

in surgical treatment for massive rectal prolapse Dis Colon Rectum 1979;22:513–21.

Vaizey CJ, Roy AJ, Kamm MA Prospective evaluation of the treatment of solitary rectal ulcer syndrome with biofeedback Gut 1997;41:817–20.

Vaizey CJ, van den Bogaerde JB, Emmanuel AV, et al Solitary rectal ulcer syndrome Br J Surg 1998;85:1617–23.

Watkins BP, Landercasper J, Belzer GE, et al Long-term

follow-up of the modified Delorme procedure for rectal prolapse Arch Surg 2003;138:498–502; discussion 502–3.

Wells C New operation for rectal prolapse Proc R Soc Med 1959;52:602–3.

Williams JG, Rothenberger DA, Madoff RD, Goldberg SM Treatment of rectal prolapse in the elderly by perineal rectosigmoidectomy Dis Colon Rectum 1992;35:830–4 Winde G, Reers B, Nottberg H, et al Clinical and functional results

of abdominal rectopexy with absorbable mesh-graft for treatment

of complete rectal prolapse Eur J Surg 1993;159:301–5 Zittel TT, Manncke K, Haug S, et al Functional results after laparoscopic rectopexy for rectal prolapse J Gastrointest Surg 2000;4:632–41.

CHAPTER 90

L.J EGAN, MD,ANDS.F PHILLIPS, MD

of the history is to determine precisely what it is about pouchfunction that is unsatisfactory to the patient A typical com-plaint might be of having to “go all the time.” The physicianmust then determine exactly what the patient means Is thepatient having true watery diarrhea, or is the main complainturgency or leakage? Is an inability to completely empty thepouch with consequent leakage of retained stool the real prob-lem? Careful evaluation of the patient’s complaints, in con-junction with knowledge of the likely causes of symptoms,should point to the correct diagnosis In practice, it is advan-tageous to divide the clinical picture into those patients whoare distressed soon after surgery from those who present later.Excessive or Uncontrolled Bowel Movements with Newly Formed

Pouches

General Approach

Problems occurring soon after the operation (0 to 6 months)present more often to surgeons, but gastroenterologists needalso to be aware of these issues (Table 90-1) It is helpful to

Proctocolectomy with ileal pouch-anal anastomosis (IPAA)

is the most popular surgical option when colonic resection

is necessary for the treatment of ulcerative colitis (UC) and

familial adenomatous polyposis However, after IPAA, patients

will always defecate more frequently than do healthy people

Thus, after proctocolectomy, whether surgical continuity is

restored with a terminal ileostomy or with a pouch, daily fecal

volumes will be 500 to 700 mL (Metcalf and Phillips, 1986)

In health, fecal volumes do not often exceed 200 mL

Moreover, the reservoir of an ileoanal pouch is smaller than

that of a normal rectum IPAA patients complaining of

fre-quent bowel movements must recognize their symptoms in

this context; they will never have only one or two solid stools

daily! Although patients who complain of frequent defecation

after IPAA may have no identifiable pathology, they can,

nev-ertheless, be helped to accept a new lifestyle by being taught

to understand the postoperative physiology (Dean and Dozois,

1997; Levitt and Kuan, 1998) Moreover, simple antidiarrheal

therapy may significantly improve their lifestyle

The majority of patients with normally functioning

IPAAs should evacuate between four and eight times per day,

and once or twice at night After the initial postoperative

phase, IPAA patients should not have extreme fecal urgency

and should be able to distinguish between the urges of

fla-tus and feces Approximately 10 to 20% of IPAA patients

experience minor leakage of stool, especially at night, when

they may need to wear a pad (Meagher et al, 1998) However,

they should be continent during the day Passage of stools

should be painless, should not be accompanied by the need

to strain, and should feel complete In taking the history, the

features of “diarrhea” need to be defined precisely; increased

fecal frequency needs to be distinguished from urgency, fecal

leakage, or gross incontinence

Importance of an Adequate History

The key to helping IPAA patients who complain of

exces-sive bowel movements is to make an accurate diagnosis

Disorders of the pouch outlet (the anal sphincter segment),

the pouch itself, or of the ileum proximal to the pouch may

be the cause of an increased stool frequency In many patients,

a careful history will provide the astute clinician with a short

list of diagnostic possibilities The most important element

TABLE 90-1 Approach to Patients After Ileal Anal Anastomosis With Excessive Bowel Movements in the First 6 Months of Pouch Reanastomosis

Pouch-Diagnostic

Pouch revision (late decisions)

526 / Advanced Therapy in Gastroenterology and Liver Disease

consider the time of onset of increased bowel frequency in

relation to the age of the pouch The first few weeks after

clo-sure of the temporary ileostomy and restoration of the fecal

stream to the pouch are often marked by frequent loose stools,

to which the pouch and the patient must be helped to adapt

The sensation of a full ileal pouch may be qualitatively

dif-ferent from that of a full rectum, and patients must learn to

recognize those sensations that indicate that they need to

empty the pouch

Thus, some patients, if they have not received adequate

preoperative counseling, have unrealistic expectations about

the functional outcomes after “curative” IPAA surgery They

need to be educated; they will always have a high fecal

vol-ume, and their stools will never be fully formed Moreover,

it is important to reassure patients that a healthy pouch and

anal sphincter will gradually adapt postoperatively and,

con-sequently, bowel function should be expected to improve

In addition to reassurance and education, simple measures

can significantly help patients with a new IPAA to learn to

compensate For example, fiber supplements, such as

methyl-cellulose or psyllium, of 1 g in a large glass of water once or

twice per day, will increase the consistency of stools

Loperamide 2 to 4 mg taken 30 minutes before meals will

reduce postprandial urgency Although many IPAA patients

find that certain foodstuffs increase stool, it is not

particu-larly helpful to counsel individual patients on the

con-sumption of specific items of food One patient’s experience

is likely to differ so much from another’s Rather, patients

should experiment, be moderate, and be guided by their

own experience in choosing a lifestyle that minimizes any

negative impacts of the pouch It is important not to

pro-mote compulsivity in dietary or other habits

Although many patients complaining of excessive bowel

frequency, diarrhea or leakage soon after IPAA will

ulti-mately be found not to have a structural/organic basis, one

must not overlook the possibility of a postoperative

com-plication Small bowel obstruction occurs in the first weeks

after pouch formation in 6 to 20% of patients Though pain

is the expected symptom of obstruction, increased fecal

volumes can be the major complaint

Anastomotic Leakage

Fortunately, leakage at the pouch-anus anastomosis is rare,

especially when the anastomosis is protected by a diverting

ileostomy Most surgical series report this as less than 10%,

though some higher rates are reported Anastomotic

leak-age typically causes pelvic pain and abscess Pouch

dysfunc-tion is exemplified by painful, incomplete evacuadysfunc-tion, and

excessive frequency Demonstration of a leak with a

retro-grade barium contrast study (pouchogram) is usually

diag-nostic Occasionally, a pouch-vaginal or pouch-perineal fistula

may develop in association with anastomotic leakage; this

should always raise the question of unrecognized Crohn’s

disease (CD) However, further investigation should bedelayed until after the initial postoperative period Treatment

is surgical, and may require intestinal diversion, drainage of

an abscess if present, and possibly revision of the pouch

Defective Sphincteric Continence

Innervation of the internal anal sphincter may be disruptedduring the perineal dissection and construction of thepouch-anus anastomosis Consequently, resting pressures

of the internal anal sphincter are usually reduced, at leastfor 6 to 12 months postoperatively After this, there is agradual return of basal anal tone; fortunately, function ofthe external sphincter, which is usually preserved, helpscompensate for any lowering of internal sphincter pres-sures Exceptions may be seen in elderly patients and mul-tiparous women whose anal pressures were low beforepouch construction In this situation, defective anal conti-nence can lead to leakage, which may be presented by thepatient as excessive bowel motions (“diarrhea”) after IPAA.Indeed, even patients who will subsequently develop excel-lent pouch function may experience soiling, incontinence,and some degree of urgency soon after ileostomy closure.Physical examination of the sphincter in these patientsreveals low resting tone and sometimes low squeeze pres-sures, findings that can be confirmed by anal manometry

if necessary Effective management involves the judicial use

of antidiarrheals such as loperamide, 2 to 4 mg 30 minutes before meals, and fiber supplements to increase stool con- sistency Biofeedback may be helpful later, for those patients

whose sphincter function returns only slowly or pletely; retraining of patients to use the external anal sphinc-ter to greater advantage can be helpful In a minority ofIPAA patients, incontinence due to poor sphincter tone per-

incom-sists, and is occasionally sufficient to require permanent

ileostomy This is one of the reasons for “pouch failure.”

Pouch Outlet Obstruction

In the early postoperative period, before takedown of thediverting ileostomy, a thin web-like stricture often forms

at the ileal pouch-anal anastomotic line After the fecalstream into the pouch is restored, persistence of this stric-ture obstructs the pouch outlet, leading to incomplete evac-uation, somewhat analogous to bladder outlet obstruction

in prostatism The patient will complain of diarrhea due

to incomplete emptying of the pouch, resulting in flow leakage and fecal frequency Digital examination ofthe anus demonstrates a narrowing of the upper anal canal.These strictures can usually be dilated easily with the fin-ger or a rubber dilator In some patients, anastomotic stric-tures can progress to become chronic, recurrent andfibrotic, and to require regular dilatation

over-Ileoanal Pouch: Frequent Evacuation / 527

Residual Inflammatory Bowel Disease (“Cuffitis”)

Modern pouch surgery leaves behind only a small cuff of

rectal mucosa, of 1 or 2 cm at the most, when a

double-stapled anastomosis is formed No rectal mucosa should

remain when the anastomosis is hand sewn in conjunction

with a distal rectal mucosectomy However, in some cases,

for example in obese patients when it is difficult to bring the

small bowel deep into the pelvis, the surgeon may need to

leave behind a more substantial cuff of rectal mucosa to

which the pouch is anastomosed The term “cuffitis” has been

used to describe persistent inflammatory bowel disease

(IBD) in the remnant of rectal mucosa Most often it occurs

in patients who had active colitis before surgery Symptoms

are proportional to the amount of rectal mucosa that

remains and to the severity of the inflammation Patients

complain of fecal frequency and urgency and the motions

are commonly watery with mucous and blood Urgency and

leakage occur, especially at night Rarely, if several

centime-ters of rectum remain, systemic symptoms of malaise,

low-grade fever or weight loss may be experienced Initial

treatment, with standard topical anti-inflammatory agents,

such as mesalamine suppositories or hydrocortisone enemas,

may be sufficient Patients who do not respond to locally

applied agents, and who require systemic steroids to control

cuffitis, will occasionally require a further operation, to

remove the inflamed rectal mucosa and to anastomose the

pouch to the upper anal canal, if technically feasible

Acute Pouchitis

IBD of the pouch (pouchitis) is a syndrome defined by

clinical, endoscopic and histologic criteria that occurs in

UC-IPAA patients (Mahadevan and Sandborn, 2003), and

seldom, if ever, affects familial adenomatous

polyposis-IPAA patients Patients complain of fecal frequency, and

the motions are commonly loose and watery and may

con-tain mucous and blood Urgency and leakage, especially at

night, are common In addition, depending on the

sever-ity of pouch inflammation, the presence of associated

fis-tulas, CD or concurrent pouch outlet obstruction, pelvic

pain may be present Systemic symptoms of malaise,

low-grade fever or weight loss are often present in the more

severe cases of pouch inflammation Physical examination

in patients with pouch inflammation is often normal

However, individuals with marked inflammation of the

pouch from any cause may have the general features of

patients with IBD, with low-grade fever, weight loss, and

pallor CD is suggested by signs of small bowel obstruction,

abdominal mass or tenderness, or perineal sepsis

In most cases, endoscopy and biopsy of the pouch will be

diagnostic We use flexible upper gut endoscopes to

exam-ine ileal pouches, because of their narrower caliber and

superior flexibility compared to sigmoidoscopes It must

be recognized that even in a healthy pouch, the ileal mucosa

undergoes metaplasia to a more colonic type; accordingly,normal ileum is not seen endoscopically or histologically.The presence of edema, erythema, mucous exudates, andulceration suggest pouch inflammation If endoscopicchanges are confined to the pouch and do not extend intothe prepouch ileum, pouchitis is the likely diagnosis.However, if aphthous or deep ulcerations and othermucosal abnormalities extend proximal from the pouch,

or are seen solely in the prepouch ileum, CD is more likely.Occasionally, a linear series of shallow ulcerations will beobserved extending along the divided pouch septum Thisappearance is suggestive of pouch ischemia, a complica-tion that may occur if the mesenteric vessels have beenstretched too deeply into the pelvis (de Silva et al, 1991).Severe microscopic inflammation can be found in apouch with a relatively normal endoscopic appearance.Thus, biopsy and histological evaluation of the mucosa areessential An experienced pathologist should be able to dis-tinguish between pouchitis, CD, and mucosal ischemia.Pouchography detects pouch leaks, fistulas and strictures,and thus can be helpful if these complications are sus-pected, or if pouchitis needs to be differentiated from CD.Almost all cases of acute pouchitis will promptly respond

to a course of antibiotics, such as metronidazole 250 to

500 mg 3 times daily or ciprofloxacin 500 mg twice dailyfor 10 to 14 days Rarely, cytomegalovirus can infect pouchmucosa leading to chronic inflammation; the diagnosis issuggested by the presence of viral inclusions on histology.Treatment with ganciclovir is reported to be effective

Excessive Bowel Frequency in Patients

with Established Pouches

General Approach

Several large series have reported excellent long term tional outcomes of IPAA for UC; these have been summa-rized and reviewed (Dean and Dozois, 1997) Ten yearsafter IPAA, incontinence had not occurred during the day

func-in 73% of patients, nor at night func-in 48% (Meagher et al,1998) However, many IPAA patients, at some time afterconstruction of the pouch, experience increased bowel fre-quency, urgency or incontinence, all symptoms that may

be presented as “diarrhea” (Table 90-2) Pouchitis is themost common, but not the only, cause of these symptoms.Disorders of the pouch other than pouchitis include dis-orders of pouch emptying, diseases in the prepouch ileum,and any of the causes of diarrhea that may occur in patientswith an intact bowel In the majority of cases, a correctdiagnosis should provide a management strategy thatbrings about improvement Ten years after IPAA surgery,pouch failure requiring pouch excision or permanentileostomy occurs in less than 5% of patients

Ileoanal Pouch: Frequent Evacuation / 529

CD

Approximately 5% of IPAA procedures are performed in

patients whose primary diagnosis is revised at some point

after surgery from UC to CD Many had their original

colectomy for “fulminant colitis.” CD may be the cause of

chronic pouch and prepouch inflammation and perianal

fistulas Once the diagnosis is confirmed, therapy is no

dif-ferent from that of pelvic and perianal CD in patients still

with a rectum Infected cavities must be drained,

obstruc-tion must be excluded, and medical therapy with

antibi-otics such as metronidazole (250 to 500 mg 3 times daily)

or ciprofloxacin (500 mg twice daily) should be begun.* It

is our practice to start immunosuppressive therapy with

AZA (2 to 2.5 mg/kg/d) or 6-MP (1.5 mg/kg/d) in CD

patients whose conditions do not warrant immediate

pouch excision Open-label experience with the tumor

necrosis factor alpha antibody (infliximab) for CD of

pouches has been published by Ricart and colleagues

(1999) A single infusion of infliximab (5 mg/kg) resulted

in a rapid and favorable response in most patients

Despite the use of powerful immunosuppressive

med-ications in patients with pouchitis, CD of the pouch, or

cuffitis, a minority of patients will not respond The

result-ing chronic inflammation leads to a scarred,

noncompli-ant pouch In such patients, it may become futile to

continue attempts at medical therapy, because the quality

of life will clearly be much better after pouch excision and

permanent ileostomy

Irritable Pouch Syndrome

A small minority of IPAA patients will experience symptoms

suggestive of pouchitis, but investigations reveal little

inflam-mation and the absence of pouch outlet or other problems

These patients respond poorly to antibiotic therapy and are

best considered as having “irritable pouches” (Schmidt et al,

1995) Empiric use of antidiarrheals or antispasmidics and

fiber supplements is the most prudent approach.†

Diarrhea Unrelated to the Pouch

After IPAA, patients are not immune to any of the morethan 100 causes of diarrhea to which those with an intactbowel are equally susceptible However, local symptoms,bleeding, incontinence and urgency tend to focus atten-tion towards a local cause in the pouch It must be recog-nized though that increased fecal volumes, from anygeneralized osmotic or secretory form of diarrhea, will, ofnecessity, stress pouch function and focus attention onpouch dysfunction, perhaps inappropriately

Thus, any of the infectious diarrheas must always beconsidered and excluded in patients with IPAA diarrhea.Moreover, patients lacking a colon are more sensitive to thefluid losses that accompany any common infectious diar-rhea which increase fecal volumes Thus, considerationmust always be given to small bowel diseases, such as celiacsprue, lactase deficiency, CD of the proximal bowel, andbacterial overgrowth If a positive diagnosis of a pouch-related cause cannot be made, etiologies outside the pouchmust be sought Chapter 56, “Dietary-Induced Symptoms,”has additional clues

Supplemental ReadingDean PA, Dozois RR Surgical options—ileoanal pouch In: Allan

RN, Rhodes JM, Hanauer SB, et al, editors Inflammatory bowel diseases, 3rd ed London: Churchill Livingstone; 1997 p 761–72.

de Silva HJ, Kettlewell MGW, Mortensen NJ, Jewell DP Acute inflammation in ileal pouches Eur J Gastroenterol Hepatol 1991;3:343–9.

Levitt MD, Kuan M The physiology of ileo-anal pouch function.

1986 p 705–22.

Ricart E, Panaccione R, Loftus EV, et al Successful management

of Crohn’s disease of the ileoanal pouch with infliximab Gastroenterology 1999;117:429–32.

Schmidt CM, Horton KM, Sitzmann JV, et al Simple radiographic evaluation of ileo and pouch volume Dis Colon Rectum 1995;38:203–8.

Stryker SJ, Kelly KA, Phillips SF, et al Anal and neorectal function after ileal pouch-anal anastomosis Ann Surg 1986;203:55–61 Thompson-Fawcett MW, Mortensen NJ, Warren BF “Cuffitis” and inflammatory changes in the columnar cuff, anal transitional zone, and ileal reservoir after stapled pouch- anal anastomosis Dis Colon Rectum 1999;42:348–55.

*Editor’s Note: If the dose of metronidazole is less than 1g/d,

peripheral neuropathy is rare.

† Editor’s Note: Some patients give a history of classic irritable

bowel syndrome (IBS) as teenagers, years before the onset of UC If

they have an IPAA, the ileum is as spastic as their colon had been as

a teenager Their pouches hold only 90 cc; on average they are only

able to expel half of the contents so they experience 10 to 20 bowel

movements per day Some do better with decyclonine than with

loperamide, which contracts the pouch I tend to urge against an

IPAA in a patient with severe preexisting IBS.

Anal FissureAnal fissure can be acute or chronic and is usually located

in the midline of the anal canal, most commonly posteriorly

When a fissure is situated off the midline, other conditions,

such as Crohn’s disease (CD), mucosal ulcerative colitis,

syphilis, tuberculosis, or leukemia, should be investigated

The main goal of treatment is breaking the cycle of

hard stool, pain, and reflex spasm This objective can

usu-ally be achieved by increasing dietary fiber using fiber

sup-plements, adequate liquid intake, and possibly stool

softeners Warm baths and topical anesthetics are helpful

in providing symptomatic relief The great majority of

patients with acute anal fissure will respond to medical

treatment For patients with chronic anal fissure, several

recently developed nonsurgical methods, including nitric

oxide and botulinum toxin, are available (Utzig et al,

2003) Calcium channel blockers and α-adrenoceptor

antagonists are still at the developmental stage Nitric oxide

ointment is used in a concentration of 0.2%, usually

tol-erable by patients, and applied in the anal canal 2 or 3

times daily for 8 weeks Transient headache is a major side

effect of this treatment, more commonly seen at higher

concentrations of the compound

Botulinum toxin injection is indicated for patients who

are unresponsive to or have contraindications for nitric

oxide treatment Two, 0.1 mL doses of diluted toxin are

injected beneath the anal fissure with a short, thin needle;

injections can be repeated if necessary There is a risk for

minor incontinence, flatus, and soiling with this treatment

Surgical lateral sphincterotomy is associated with a greater

risk of incontinence and is offered to patients who relapse

or fail these newer nonsurgical methods Sphincterotomy

can be performed under local, regional, or general

anes-thesia as an open or closed procedure and is routinely

per-formed on an outpatient basis

Anorectal Abscess

Anorectal abscess frequently results from a

cryptoglandu-lar infection Extension may lead to perianal, ischiorectal,

intersphincteric, or supralevator abscess A horseshoe

abscess originates from the deep postanal space

commu-nicating to the right and left ischiorectal spaces

530

CHAPTER 91

The treatment of an anorectal abscess is incision anddrainage With the exception of simple perianal and ischiorec-tal abscesses, the surgery is performed in the operating roomunder adequate anesthesia A cruciate incision is made andthe edges of the skin are excised to allow adequate drainage

A horseshoe abscess is drained through an incision made

between the coccyx and the anus, exposing the deep postanalspace An opening made in the posterior midline and thelower part of the internal sphincter is divided to eradicate thesource of the infected gland Counter incisions are made overeach ischiorectal fossa to allow drainage of the anterior exten-

sions of abscess (Figure 91-1).

An intersphincteric abscess usually requires evaluation

under anesthesia for the diagnosis Treatment involvesunroofing of the abscess cavity by partially dividing theinternal sphincter along the length of the abscess cavity A

supralevator abscess most often results from a pelvic abscess,

but can also result from an upward extension of an sphincteric or ischiorectal abscess It is important to deter-mine the source of the abscess, as the surgical approachdiffers in each case If the origin is an intersphinctericabscess, it is drained through the rectum in order to avoid

inter-a suprinter-asphincteric fistulinter-a, inter-as would occur through theischiorectal fossa In contrast, if the cause is an upwardextension of an ischiorectal abscess, drainage should bethrough the ischiorectal fossa Finally, if the abscess origi-nates from the pelvis, drainage can be achieved eitherthrough the rectal lumen or by laparotomy It is our prac-

tice not to perform a fistulotomy during drainage due to

the risk of incontinence as the tissue planes are inflamedand distorted, precluding accurate assessment of sphinc-ter involvement

Fistula in AnoFistulas are classified as intersphincteric, transsphincteric,extrasphincteric, and suprasphincteric Treatment is gen-erally surgical, except in patients with CD with active prox-imal intestinal disease The goal of treatment is to cure thefistula, avoid recurrence, and preserve continence.Therefore, identification of the primary opening and sidetracts and division of the least amount of muscle are thekey factors for surgical success

532 / Advanced Therapy in Gastroenterology and Liver Disease

the edge of the lesion and in all four quadrants of the ineum Biopsies are taken at the dentate line, anal verge,and the perineum In the absence of invasive cancer, a widelocal excision is performed Small defects are primarilyclosed, while large wounds are covered by split thickness

per-or rotational per-or advancement flaps per-or left to heal by ondary intention In the presence of invasive carcinoma,

sec-a more sec-aggressive sec-approsec-ach such sec-as sec-abdominoperinesec-alresection or combined chemoradiation therapy is indi-cated Microscopic disease serendipitously found in hem-orrhoidectomy specimens is conservatively treated withclose follow up Current controversy surrounds the treat-ment of Bowen’s disease Recent data suggest that areas ofanal intraepithelial neoplasia can usually be evaluated Ifthis conservative approach is ultimately proven sufficient,then the disfiguring excisional procedure will be avoided

Paget’s Disease

Paget’s disease is a potentially malignant lesion consisting

of intraepithelial adenocarcinoma Association with

syn-chronous visceral carcinomas is stronger for Paget’s than for

Bowen’s disease, and, therefore, appropriate evaluation toexclude malignancies is recommended Diagnosis andmanagement is similar to that for Bowen’s disease Patientsare closely monitored and a biopsy of any suspicious lesion

is performed; local recurrence is treated with repeat widelocal excision

Rectal ProlapseRectal prolapse is a full thickness protrusion of the rectumthrough the anal sphincters The treatment is surgicalrepair; whether a perineal or a transabdominal repair isindicated depends mainly on the patient’s medical condi-tion (Figure 91-2) The laparoscopic technique consists

of mobilization of the rectum in the presacral space to thelevator ani and direct suture of the lateral rectal attach-ments to the presacral fascia Because division of the lat-eral stalks decrease the recurrence rate but increasepostoperative constipation, we perform a full posterior andanterior mobilization but only divide the upper half of thelateral stalks Other fixation procedures which use mesh tofix the rectum to the presacral fascia have been advocated;however, we prefer to avoid using foreign material in thepelvis The abdominal approach has lower recurrence rateswith slightly higher morbidity compared with the perinealapproach Regarding the perineal techniques, in a previousreport from our institution comparing Delorme procedureand perineal rectosigmoidectomy with and without leva-torplasty, the recurrence rate was statistically significantlydifferent at 27.5%, 12.5% and 4%, respectively (Agachan

et al, 1997)

able to avoid more extensive surgery

There are two chapters on perianal disease in CD (see

Chapter 82, “Perianal Disease in Inflammatory Bowel

Disease” and Chapter 83, “Dysplasia Surveillance

Program”)

Anal Neoplasm

Evaluation including digital rectal examination, colonoscopy,

endorectal ultrasound, computed tomography, and

exami-nation of inguinal lymph nodes is performed to evaluate the

nodal and systemic spread of the disease The great

major-ity of anal tumors consist of squamous cell carcinoma Our

management consists of a modified version of Nigro’s

pro-tocol with combined chemoradiation therapy (Beck and

Wexner, 1996) Radiation entails 30 to 48 Gy given over 4

weeks plus administration of IV 5- fluorouracil (1,000

mg/m2/d) on days 1 to 5 and days 31 to 35 and mitomycin

C (15 mg/m2) on day 1 After completion of

chemoradia-tion, patients are closely monitored with digital

examina-tion, proctoscopy, and biopsies of tissue from any

suspicious areas Patients with persistent or recurrent

dis-ease may be recommended to undergo salvage

chemother-apy with cisplatin with or without radiation However,

abdominoperineal resection is still occasionally indicated.

Adenocarcinoma of the anal canal may arise from a chronic

fistula Because of the high recurrence rates despite

radi-cal surgery, we have also used combined modality

ther-apy for these tumors

Anorectal melanoma is associated with a very poor

prog-nosis The treatment is surgical as these tumors are

resis-tant to chemoradiation therapy The size and depth of the

tumor is the strongest determinant of outcome If local

con-trol can be obtained, or in the case of advanced disease, wide

local excision is performed Abdominoperineal resection is

reserved for patients in whom local control is not possible

by wide local excision or for salvage local control in selected

patients with an isolated local recurrence However, in the

vast majority of these patients local excision is the

appro-priate therapy as abdominoperineal resection does not

appear to confer any additional advantages related to

recur-rence or survival

Bowen’s Disease

Bowen’s disease is a rare, potentially malignant

intraep-ithelial squamous cell carcinoma (carcinoma in situ) If the

lesion is visible, biopsy and histopathologic evaluation is

required to distinguish it from other perianal dermatoses

Once the diagnosis is made, we perform “anal mapping,”

to assess the extent of the disease and to ensure excision of

the lesion with negative microscopic margins The “anal

mapping” technique consists of biopsies taken at 1 cm from

534 / Advanced Therapy in Gastroenterology and Liver Disease

the high penicillin resistance, a single dose of 250 mg

intra-muscular ceftriaxone (Rocephin) followed by 100 mg oral

doxycycline bid for 7 days may be used as a first choice.

Recurrence rates may be high (up to 35%), therefore, thepatient is instructed to return for follow-up for smears andcultures to confirm remission Because patients with gon-

orrhea may have associated chlamydial infection, treatment

for chlamydia is instituted as well

Chlamydia trachomatis

Chlamydia infection is caused by Chlamydia trachomatis The organism can cause proctitis similar to that of CD Untreated disease may become ulcerated causing fistulas,

abscesses, or rectal stricture, which may be misdiagnosed as

adenocarcinoma Diagnosis is usually made by serology Treatment consists of oral tetracycline or erythromycin, 500

mg 4 times a day for 3 weeks Rectal strictures are ily treated medically; in case of failure, surgical resectionwith coloanal anastomosis may be required

primar-Patients with moderate to severe stenosis are treated with

advancement flap procedures, which replace the fibrous

tissue with elastic compliant neoanoderm We prefer to use

the house shape flap (Figure 91-3) The advantage of this

flap over other described flaps (V-Y, Y-V) is that it has a

broader base allowing advancement of maximal skin to the

stenosis without tension on the flap This technique

con-sists of performing an incision in the stenotic area and

advancing the mobilized flap of skin in that area The edges

of the flap are then sutured at the level of the stenosis

Either the flap may be unilateral or bilateral

For patients who may require excision of a large amount

of skin, such as patients with Bowen’s or Paget’s disease,

the S-plasty is a good option The defect is covered by a

double rotational flap, outlined by a large “S” with the anal

canal in the center (Figure 91-4)

Sexually Transmitted Diseases

Gonorrhea

Gonorrhea is caused by Neisseria gonorrhea, affecting

pri-marily the rectum, leading to severe proctitis with a yellow

mucopurulent discharge The diagnosis is confirmed by a

swab and culturing of the rectal discharge using

Thayer–Martin medium The treatment is instituted

empirically with 4.8 million units of intramuscular

aque-ous procaine penicillin G and 1 g oral probenecid Due to

FIGURE 91-3 House shape (advancement) flap: A, House shaped

flap is created; B, the flap is advanced into the anal canal; and C, sutured

in place Reprinted from Fundamentals of Anorectal Surgery, 2nd Edition,

Wexner et al, Fistula in ano and anal stenosis (Fig 14.12, page 221).

Reproduced with permission from Elsevier Ltd.

FIGURE 91-4: S-plasty A, Perianal skin lesion requiring removal

of large skin area; B, area of perianal skin excised, lateral curves incised into buttocks; C, curves of skin advanced into perianal defect and secured

laterally to produce S-shaped closure of rotated flaps Reprinted from Fundamentals of Anorectal Surgery, 2nd Edition, Wexner et al, Fistula

in ano and anal stenosis (Fig 14.13, page 221) Reproduced with mission from Elsevier Ltd.

tum, systemic diseases, diarrheal states, and dermatologicconditions, in which case appropriate therapy is instituted.The majority of cases, however, are idiopathic and there

is no panacea treatment for this condition First, it is

important to reassure these patients that they do not have

a cancer; avoidance of scratching is essential and is

empha-sized in order to break the scratch-itching-scratch cycle

Clothing is discussed and tight fitting pants or

undergar-ments should be avoided, and all possible irritants to the

perianal area, such as harsh toilet papers, soaps, creams,

and ointments, should be discontinued Foods and

bever-ages such as tomatoes, spicy foods, nuts, coffee (regular or

decaffeinated), milk products, tea, beer, wine, and

choco-late can cause pruritus and the patient is instructed to

elim-inate each of these products for a 1 week duration to help

determine if any are causative factors It is extremely

important that the perianal skin be kept clean and dry.

Patients are instructed to clean the perianal area gently butthoroughly after each bowel movement with water or anonalcoholic towelette and dry it with a hair dryer at a coolsetting or by dabbing with a soft cotton cloth Bulkingagents are added to regulate bowel habits and minimizeincomplete evacuation and soiling Warm sitz baths for 20

minutes may also provide some relief Short term

hydro-cortisone cream 0.5 to 1% can be used in resistant cases.

Supplemental ReadingAgachan F, Reissman P, Pfeifer J, et al Comparison of three perineal procedures for the treatment of rectal prolapse South Med J 1997;90:925–32.

Beck ED, Wexner SD Anal neoplasms In: Beck DE, Wexner SD, editors Fundamentals of anorectal surgery 2nd ed London:

WB Saunders; 1996 p 261–77.

Fleshman JW Fissure in ano and anal stenosis In: Beck DE, Wexner SD, editors Fundamentals of anorectal surgery, 2nd

ed London: WB Saunders; 1996 p 221.

Mizr ahi N, Wexner SD, Da Silva GM, et al Endorectal advancement flap: are there predictors of failure? Dis Colon Rectum 2002;45:1616–21.

Utzig MJ, Kroesen AJ, Buhr HJ Concepts in pathogenesis and treatment of chronic anal fissure—a review of the literature.

Am J Gastroenterol 2003;98:968–74.

Vasilevsky CA Fistula in ano and abscess In: Beck DE, Wexner

SD, editors Fundamentals of anorectal surgery, 2nd ed London: WB Saunders; 1996 p 156.

Zmora O, Mizrahi N, Rotholtz N, et al Fibrin glue sealing in the

t re a t m e n t o f p e r i n e a l f i s t u l a s D i s Co l o n Re c t u m 2003;46:584–9.

Herpes

Herpetic infection is confirmed by culture of suspicious

vesicles Management of acute symptoms includes

anal-gesics, sitz baths, and stool softeners Oral acyclovir

(Zocyrax), 200 to 400 mg 5 times a day for 10 days is

pre-scribed to shorten the duration of pain, viral shedding, and

systemic symptoms in primary herpes

Syphilis

Primary anal syphilis can manifest as a painless fissure If

left untreated it can progress to secondary syphilis

mani-fested in the perianal area as condyloma latum, multiple

raised warty lesions that coalesce Tertiary syphilis can occur

at more than 1 year following primary infection,

mani-festing as neurologic, cardiovascular, renal, hepatic,

mucosal, and ocular symptoms Once the diagnosis is

con-sidered, a biopsy is performed on the suspicious ulcer and

the tissue is evaluated under darkfield microscopy and with

serologic testing Therapy consists of a 2.4 million units

intramuscular benzathine penicillin injection In patients

allergic to penicillin, doxycycline may be used

Condylomata Acuminata

The management of condylomata acuminata depends on

the extent and location of the lesions Treatment options

include destructive therapy (podophyllin, trichloroacetic

acid, bichloroacetic acid, electrocautery, and laser surgery),

excisional therapy, and immunotherapy We prefer

bichloroacetic acid 89 to 90%, a caustic agent that, unlike

podophyllin, can be used on the perineum and inside the

anal canal, has no systemic toxicity, and does not cause the

histological changes resembling carcinoma in situ, which

can occur after podophyllin application Application can be

done at 7 to 10 day intervals Surgical excision has the

imme-diate advantage of reliably eliminating warts and allowing

tissue collection for histopathologic analysis However, it is

associated with significant pain, potential stricture

forma-tion, and cost for the anesthesia Thus, topical therapy is

preferred unless there is extensive condyloma

Immuno-therapy is reserved for patients with recurrent warts.

Pruritus AniPruritus ani is a difficult condition to treat A careful his-

tory and physical examination should be performed to

exclude secondary causes, such as diseases of the

anorec-Anorectal Diseases / 535

CHAPTER 92

rhoids are occluded veins induced by congestion and cular hyperplasia However, the most widely accepted the-ory suggests that pathologic slippage of the anal canal lining

vas-is induced by attenuation of the muscular fibers anchoringthe vascular cushions caused by continued downward pres-sure during defecation This process results in sliding, con-gestion, bleeding, and eventual prolapse of the hemorrhoids.Contributing factors include chronic straining, aging,increased intra-abdominal pressure, and absence of sinu-soidal valves Elevated anal resting pressures and ultraslowwaves are associated physiological changes; however, theimportance of these findings is unclear and may only rep-resent secondary phenomena

DiagnosisThe diagnosis of hemorrhoidal disease is based upon elu-cidating a proper history and performing a physical exam-ination Patients usually complain of blood appearing onthe toilet tissue and/or in the toilet bowl after defecation In

Hemorrhoidal disease is a very common medical

distur-bance, equally distributed among males and females

Incidence peaks at middle age, and declines after the age of

65 years Because many patients attribute anorectal

symp-toms to hemorrhoids, the precise occurrence of

hemor-rhoidal disease is difficult to compute The probable

prevalence of this condition as estimated by questionnaires

is between 4 to 40%, with approximately 1,100 medical

office visits per 100,000 persons annually (Sardinha and

Corman, 2002)

Anatomy and Physiology

Hemorrhoids are cushions of vascular tissue that are

pre-sent from birth and are therefore considered normal

anatomy Internal hemorrhoids arise from the superior

hemorrhoidal vascular plexus cephalad to the dentate line

and are covered by mucosa External hemorrhoids are

dila-tions of the inferior hemorrhoidal plexus Located below

the dentate line, they are covered with anoderm and

peri-anal skin Because these plexuses communicate, a

combi-nation of external and internal hemorrhoid (mixed

hemorrhoids, Figure 92-1) is often seen

There are three major hemorrhoidal cushions, which

appear in the left lateral, right anterior, and right posterior

positions; however, intervening minor hemorrhoidal

com-plexes may obscure this order Although the exact role of

hemorrhoidal cushions has yet to be defined, it is

gener-ally accepted that these vascular cushions contribute to

continence by partially occluding the anus Additionally,

they may protect the anal canal during defecation

Pathophysiology

Many theories have been proposed to describe the

mecha-nism by which hemorrhoids protrude and become

symp-tomatic, causing bleeding, soiling, pruritus, difficulty with

hygiene, and occasional pain (Loder et al, 1994)

Hemorrhoids were once believed to be varicosities of the

hemorrhoidal veins induced by portal hypertension

Although portal hypertension may contribute to the

devel-opment of anorectal varices, hemorrhoids may form

inde-pendently and distinctively to the degree of portal

hypertension Another popular explanation is that

hemor-FIGURE 92-1 Patient in prone position with mixed hemorrhoids

(both internal and external components) in classic locations in the left lateral, right posterior, and right anterior positions

Hemorrhoids / 537

some patients, chronic hemorrhoidal bleeding may cause

asymptomatic or even symptomatic anemia Patients may

complain of tissue protrusion, mucus discharge, itching,

perianal hygiene difficulties, and incomplete evacuation

Constipation is common but not secondary to

hemor-rhoids Pain is uncommon and is usually associated with

complicated thrombosed or ulcerated hemorrhoids Other

anorectal pathologies such as anal fissures, fistulas, skin tags,

inflammatory bowel disease (IBD), tumor, and rectal

pro-lapse should be included in the differential diagnosis

The patient should be thoroughly examined in the left

lateral decubitus position with a step-by-step explanation

provided to the patient of what will occur during the

exam-ination Digital examination should be gently performed

after inspection and palpation of the perianal region for

masses and tenderness Abnormalities should be

anatomi-cally described and recorded (ie, left lateral, right

poste-rior, etc) with particular attention to thrombosis, ulceration,

sites of drainage, and/or any signs of necrosis The

exami-nation should be completed by anoscopy and by rigid or,

preferably, flexible sigmoidoscopy Full colonoscopy is

indi-cated to rule out any other proximal pathology in patients

>50 years of age or younger, if risk factors for colorectal

car-cinoma exist or if bleeding persists after treatment of

hem-orrhoids Other anorectal physiology tests have no use, thus

far, in the diagnosis of hemorrhoidal disease

Classification

Hemorrhoids are classified by location as internal, external

or mixed in relation to the dentate line, and by the degree

of prolapse External hemorrhoids are located below the

dentate line, are covered by squamous mucosa, and are

painful when thrombosis occurs Internal hemorrhoids are

located above the dentate line and may prolapse,

throm-bose, or bleed The degree of prolapse is staged as follows:

1 Cushions bulge into the lumen and may bleed

dur-ing defecation but do not prolapse

2 Cushions prolapse during defecation or straining but

toms, location (external versus internal versus mixed), the

degree of prolapse, and the length of time from presentation

(for thrombosed external hemorrhoids) Therapy should be

tailored appropriately to relieve symptoms and to uphold

remission (The Standards Task Force, 1993) Aside from

hemorrhoidectomy, most types of therapy can be performed

in a medical office setting

Certain practical guidelines should be applied

regard-less of the hemorrhoidal type or stage Patients should beinstructed on proper bowel habits including quick response

to defecation urge and avoidance of unnecessary prolongedtoilet time Proper perianal hygiene may reduce irritationand itching Patients should be instructed to use moistenedtoilet paper (not recycled or perfumed) or wipes, and fre-quent sitz baths are recommended, particularly following

a bowel movement

Dietary high fiber supplements (20 to 30 g/d) with orwithout additional bulking agents, such as psyllium, arerecommended to reduce the need to apply increasingdownward pressure during defecation Fiber supplementshave been suggested to reduce bleeding and pain duringdefecation, however, the data are inconsistent

Prescription and nonprescription topical agents are tiful and include creams, suppositories, and ointments Theseproducts may contain astringents, analgesics, and steroidaland nonsteroidal elements that function as anti-inflammatory,local vasoconstrictors and anesthetic mediators to relievelocal symptoms Allergic reactions to anesthetic preparationshave been reported Other than the potential risk of devel-oping contact dermatitis after long term use of topicalsteroids, topical substances are generally considered safe.Despite the widespread use of these products, there havebeen no clinical trials to confirm their therapeutic value.Management of External Hemorrhoids Patients who present with acutely thrombosed externalhemorrhoids will typically complain of an intensely painfulanal mass Inspection of the perianal skin reveals the diag-nosis with a swollen, tense external hemorrhoid If such alesion is not present, anal fissure or perianal abscess must

plen-be ruled out

Excision is recommended for a thrombosed hemorrhoid

manifested with intense pain if duration is within 48 hours

of onset, or if ulceration or rupture occurs If pain isimproving, symptomatic therapy with sitz baths, bulkingagents, and analgesics is preferred Excision may be per-formed in the office using local anesthetic The wound isleft open to heal by secondary intention Larger, morebroadly based thromboses may be managed by incision andevacuation of the clot to avoid creation of a large skin defect.Management of Internal and Mixed

Hemorrhoids

Nonsurgical Treatment

Most patients visiting a physician have already tried someform of conservative therapy and come for medical attentionbecause of persistent symptoms A variety of office-basedtherapies are available, and common to these nonoperativeprocedures is the aim of abolishing the underlying patho-

538 / Advanced Therapy in Gastroenterology and Liver Disease

physiologic mechanism of advanced hemorrhoidal disease

By promoting tissue fibrosis in various ways, the vascular

cushions become fixed to the underlying muscular tissue

Injection Sclerotherapy

Injection sclerotherapy has been used for hemorrhoidal

dis-ease treatment for over 100 years Indicated to treat

bleed-ing first, second, or early third degree internal hemorrhoids,

a small amount of a sclerosing agent is injected above the

dentate line Five percent phenol in vegetable oil has been

traditionally used, but other agents such as quinine, urea

hydrochloride, and sodium morrhuate, are available It is a

straightforward, quick, painless, and inexpensive method,

with success reported in up to 75% of patients Although

complications of pelvic sepsis and perianal necrosis have

been reported, sloughing of the overlying mucosa, local

infections, and allergic reactions to the injected material are

more commonly described side effects

RUBBERBANDLIGATION

Rubber band ligation is probably the most commonly used

nonoperative modality to treat internal hemorrhoids It

is generally a safe, simple and cost effective procedure

indi-cated for second or third degree hemorrhoidal disease An

elastic rubber band is applied anoscopically or

endoscop-ically by means of a special introducer to the tissue just

above or at the base of a symptomatic pile Care must be

taken to apply the band above the dentate line, otherwise

severe pain will ensue, and the band will need to be

removed Rubber band ligation induces necrosis and

slough of the strangulated mucosa Fibrosis occurs, and the

remaining cushion becomes fixed to the underlying tissue

Patients should be informed to expect delayed rectal

bleed-ing in about 7 to 10 days after the procedure.

Treatment of more than one hemorrhoidal group per

ses-sion is the subject of continued debate Proponents of

mul-tiple banding at a single session cite a low completion rate

and quicker total treatment time with less office visits and

more rapid resolution of symptoms (Armstrong, 2003)

Alternatively, those who believe in banding only one group

per visit avoid multiple bands because of the potential for

increased discomfort, potential for obstruction, and an

increased risk of septic complications Up to 80% of patients

will benefit from rubber band ligation The recurrence rate is

between 15 to 20%, with <2% incidence of minor

compli-cations such as anal pain and bleeding Rare cases of pelvic

sepsis have been reported

THERMALINJURYAlternative methods of treatment use different energy

sources to induce hemorrhoidal fixation by way of thermal

injury These techniques include electrocoagulation, heater

probes, laser photocoagulation, and infrared

photocoagula-tion (IRC) IRC uses an infrared source to generate high

temperature to induce submucosal tissue destruction Thistechnique is uncomplicated, easy to perform, and mild withgood results and low morbidity However, the expense ofthis equipment for office-based therapy has diminished its

use Cyrotherapy produces tissue destruction by a rapid

cel-lular freezing and thawing Postprocedural pain, slow ing and risk for internal sphincter damage have led mostsurgeons to abandon this method

heal-There are no good prospective randomized control ies that compare the various fixation modalities, and exist-ing trials do not demonstrate superiority of any particularmethod In a meta-analysis comparing injection sclerother-apy, IRC, and rubber band ligation, injection sclerotherapywas found to be somewhat less efficient than the other forms

stud-of therapy.5In the absence of randomized trials, and becausetreatment methods appear equally effective, the techniquechosen for each patient should be customized to the prob-lem and to the experience of the treating surgeon or physi-cian Regardless of the solution offered, patients should beadvised to continue following general recommendations,such as avoiding straining and maintaining fiber use Patientfollow-up should continue for treatment effectiveness and

to complete the colon evaluation as described above

STRANGULATEDPROLAPSEDINTERNALHEMORRHOIDS

Strangulated prolapsed internal hemorrhoids are often

ede-matous and thrombosed due to a compromised venousreturn Initial management is usually nonoperative If thepiles are not gangrenous, a perineal field block may be per-

formed to aid in manual reduction Application of table

sugar (sucrose) to prolapsed hemorrhoids acts as a

desic-cant to absorb fluid and reduce hemorrhoidal edema Ifsuccessful in reducing incarcerated piles, less morbid treat-ment may then be performed more electively Severe painaccompanied by a foul smelling discharge usually impliesthe presence of gangrene Under these conditions, urgenthemorrhoidectomy is indicated

Special situations deserve mention Pregnant women

frequently endure hemorrhoidal disease Conservativetreatment is recommended, because symptoms usuallysubside after delivery Nonsurgical treatment is also advised

for immunocompromised patients and/or in patients fering from IBD Perianal procedures may result in infec-

suf-tion and delayed wound healing in these patients

Surgical TreatmentIndications for surgical hemorrhoidectomy includeadvanced third or fourth degree piles, mixed hemorrhoids,extensive thrombosis, ulceration, and gangrene The choice

of surgical procedure depends upon the patient’s tion, and surgeon and patient preferences Similarly, anes-thetic choices include local anesthesia plus monitored

condi-FIGURE 92-2 Fourth degree (irreducible) hemorrhoids before (A)

and immediately after (B) procedure for prolaspe and hemorrhoids (PPH) has been performed Circumferential specimen of mucosa and submu- cosa excised with the PPH stapler (C).

A

B

C

Hemorrhoids / 539

sedation, regional techniques, and general anesthesia

Traditionally, regional training and culture have influenced

the choice of operation Most surgeons in the United States

practice the closed technique, or Ferguson

hemorrhoidec-tomy, where following hemorrhoidal excision, the rectal

mucosa and anoderm are closed with an absorbable radial

suture line beginning at the apex of each hemorrhoidal

complex Recurrence rates are <2% Scissors, electrocoutery,

laser, and scalpel may be used; however, none have been

proven to be superior over other means of excision

Hemorrhoidectomy using advanced technologies such as

harmonic scalpel and ligasure have been reported to have

fewer complications and a quicker return to daily living,

however, further evaluations are indicated

Alternatively, surgeons in the United Kingdom, Europe,

and many parts of Asia favor the open hemorrhoidectomy

technique described by Milligan and Morgan After

exci-sion of the hemorrhoidal complex(es) with overlying skin

and rectal mucosa and ligation of the base(s) of the pile(s),

surgical wounds are left open to heal by secondary

inten-tion An open wound minimizes the risk for infection, but

a longer convalescence period and considerable

discom-fort may result (Senagore, 2002) This technique is advised

in the presence of gangrene where there is a greater risk for

infection, or when surgical judgment suggests that closure

may be too tight or promotes stricture formation

Procedure for Prolase and Hemorroids

Recently, an alternative technique has been developed and

tested that is associated with markedly reduced

postopera-tive pain (Sutherland et al, 2002) The procedure for

pro-lapse and hemorrhoids (PPH), or stapled hemorrhoidectomy,

employs a circular stapler with a hollow head to excise a cuff

of tissue at the most superior aspect of hemorrhoidal

com-plexes and create a superficial end-to-end anastomosis

(Figure 92-2) During this procedure, a submucosal

purses-tring is placed 4 cm above the dentate line and is secured to

the post of the anvil of the stapler The excess tissue is pulled

into the hollow head of the stapler as the stapler is closed As

the stapler is fired, a circumferential cuff of tissue is excised,

and the superficial anastomosis is created In effect an

anopexy is performed which lifts the prolapsed tissue into

the anal canal Randomized trials have reported significantly

lower pain scores when compared to conventional

hemor-rhoidectomy procedures Although higher instrument costs

may deter widespread acceptance of the PPH, less pain, a

shorter convalescence, and earlier return to normal activity

should be considered in the choice of surgical therapy

ConclusionsHemorrhoids are a common condition with a variety of

presenting symptoms Rectal bleeding should not be

attrib-540 / Advanced Therapy in Gastroenterology and Liver Disease

uted to hemorrhoids alone without proper investigations,

especially if symptoms persist following therapy Most early

lesions may be treated in the office setting Advances in

stapling devices offer less painful means of surgical

man-agement for advanced hemorrhoidal disease

Supplemental Reading

Armstrong DN Multiple hemorrhoidal ligation: a prospective,

randomized trial evaluating a new technique Dis Colon

Loder PB, Kamm MA, Nicholls RJ, Phillips RK Hemorrhoids: patholog y, pathophysiolog y and aetiolog y Br J Surg 1994;81:946–54.

Sardinha TC, Corman ML Hemorrhoids Surg Clin North Am 2002;82:1153–67.

Senagore AJ Surgical management of hemorrhoids J Gastrointest Surg 2002;6:295–8.

Sutherland LM, Burchard AK, Matsuda K, et al A systematic review

of stapled hemorrhoidectomy Arch Surg 2002;137:1395–406 The Standards Task Force American Society of Colon and Rectal Surgeons Practice parameters for the treatment of hemorrhoids Dis Colon Rectum 1993;36:1118–20.

screen-of colorectal cancer with its attendant morbidity and ment costs also is substantially reduced (Winawer et al,1993; Mandel et al, 2000).

treat-The Advanced Adenoma as the Primary Target of

Screening

The prevalence of small (≤ 1 cm) simple tubular

adeno-mas in adults over the age of 50 years exceeds 30% These

common small adenomas, however, have a very lowmalignant potential Studies indicate that most remainstatic or actually regress with time, whereas only a fewdevelop the additional acquired genetic changes thatmake them grow, develop the advanced histologic changes

of villous architecture or high grade dysplasia, and turn

eventually to cancer Advanced adenomas as defined by the National Polyp Study are those that are ≥ 1 cm in size

or contain villous tissue or high grade dysplasia These

advanced polyps are much less common, but much morelikely to progress to cancer if not detected by screening

A large body of recent scientific data indicates that weclinicians should shift our focus away from simply detect-ing and removing large numbers of small tubular ade-

nomas, toward strategies that reliably detect most advanced

adenomas Long term postpolypectomy studies nicely

demonstrate the validity of this important concept (Bond,2000) Follow-up studies from the Mayo Clinic and from

St Mark’s Hospital in London show that patients withresection of only one or two small tubular adenomas have

no measurable increased risk of developing subsequentcolorectal cancer compared with the average population

In contrast, patients with large (≥ 1 cm) or multiple (≥ 3)adenomas, or adenomas with villous changes or highgrade dysplasia have a risk of metachronous cancer that

is increased 3- to 6-fold Thus, the objectives of colorectal

cancer screening are to (1) detect cancers that have

devel-oped while they are still confined to the bowel and cal cure is very likely or (2) to detect and resect advanced

surgi-adenomas thereby preventing cancer The choice of a

screening option should be guided by how well it plishes these two objectives

accom-Separate evidence-based guidelines developed and revised

during the past 8 years by the US Preventive Services Task

Force, a consortium of medical and surgical

gastrointesti-nal (GI) societies, and by the American Cancer Society, all

strongly recommend that physicians screen their patients

over the age of 50 years for colorectal cancer (Pigone et

al, 2002; Winawer et al, 2003; Smith et al, 2001) The

guide-lines also recommend that before beginning screening, each

patient first should be examined for any special risks of

col-orectal cancer that might indicate the need for more intense

examination and surveillance, rather than the use of

stan-dard screening meant for asymptomatic, average-risk

indi-viduals If a screening test is positive, appropriate diagnostic

evaluation and treatment of detected neoplasia is essential

If screening is negative, repeat screening should be

arranged appropriately for the method used This chapter

will include the advantages and disadvantages of current

screening options I will also present my preferred

meth-ods to accomplish these objectives and discuss the reasons

for their selection from the menu of options contained in

the guidelines

Objectives of Colorectal Cancer

ScreeningThere are two primary objectives of colorectal cancer

screening The first is to detect cancers that have already

developed while they are still confined to the bowel and no

lymph node or distant metastases yet have occurred Studies

indicate that the average surgical cure rate for such Dukes

A and B cancers (Stage I and II) exceeds 85% (Mandel et al,

1993) Because most of these early, favorable cancers are

asymptomatic, they must be detected by screening

The second major objective of colorectal cancer

screen-ing is prevention Studies now indicate that > 95% of

col-orectal cancers originate in benign adenomatous polyps

(adenomas) that develop and grow very slowly in the colon

over many years before they turn cancerous (Bond, 2000)

Detection and resection of premalignant polyps therefore

prevent cancer, and this has become an objective of

screen-ing that is as important, or perhaps even more important,

than just detecting early cancers Studies, such as the

National Polyp Study and the Minnesota Fecal Occult

542 / Advanced Therapy in Gastroenterology and Liver Disease

Risk Stratification for Colorectal Cancer

Most people are at average risk for colorectal cancer

sim-ply because they have reached the age when the prevalence

of cancer is sufficient to justify screening Based on

age-incidence curves for this disease, guidelines recommend

that screening of the average-risk population (both men

and women) begin at the age of 50 years Reported direct

screening colonoscopy experiences in people age 40 to 49

years confirm the very low prevalence of advanced

neo-plasia in average-risk people under age 50 years of age

Patients with a personal or family history of colorectal

can-cer or adenomas, or those with long standing ulcan-cerative

col-itis (UC) or Crohn’s colcol-itis may have a higher risk of

colorectal cancer that often begins at an earlier age, and

these patients may benefit from special, more intensive

examination or screening Screening recommendations for

these high risk groups are clearly outlined in the GI

Consortium Guideline (Winawer et al, 2003) and will not

be discussed further here There is a separate chapter on

inflammatory bowel disease and cancer (see Chapter 83,

“Dysplasia Surveillance Programs”)

In order to determine whether a patient is average or

above average risk, I recommend taking a careful family

and personal history before initiating a screening option

As spelled out in this guideline, risk stratification can

quickly be accomplished in just a few minutes by asking

each patient the following several questions well in advance

of the earliest potential initiation of screening:

1 Has the patient had colorectal cancer or resection of

a benign adenomatous polyp?

2 Does the patient have long standing chronic UC or

Crohn’s colitis that predisposes him or her to

colorec-tal cancer?

3 Has a family member had colorectal cancer or an

ade-nomtous polyp? If so, how many relatives were

affected, at what age was the cancer or polyp

diag-nosed, and were they first-degree relatives (parent,

sib-ling, or child)?

A positive response to any of these questions indicates

the need to do a more formal family history or more

detailed investigation of the patient’s past history to

deter-mine if more intense screening or screening at an earlier age

is justified according to the guidelines There are separate

chapters on colonic neoplasia and genetic counseling (see

Chapter 94,“Colonic Neoplasia: Genetic Counselling”), and

colorectal polyps and polyposis syndrome (see Chapter 95,

“Colorectal Polyps and Polyposis Syndromes”)

Guideline Options for Screening

Unlike screening for other major malignancies (ie, breast,

cervix, and prostate) where a single screening test usually

is recommended, the colorectal cancer screening guidelines

present a menu of five different options, any one of which

is considered satisfactory These options include the lowing:

fol-1 Annual screening with fecal occult blood tests (FOBT)

2 Flexible sigmoidoscopy screening every 5 years

3 The combination of annual FOBTs and flexible moidoscopy every 5 years

sig-4 Double-contrast barium enema (DCBE) every 5 years

5 Direct colonoscopy screening every 10 years

As discussed below, the guidelines emphasize that each

of these five options has advantages and limitations thatshould be presented to the patient Then, in a “shared deci-sion process” the patient should be given an opportunity

to choose their own preference as to how they wish to bescreened Proponents of screening stress that “the onlyunacceptable option is to do no screening” and “the bestscreening option may be the one that the patient actuallywill agree to do.”

Advantages and Limitations of the Five Screening Options

FOBT

The FOBT is the most intensively studied of the different

screening options and is the only method that has beenshown to be efficacious in randomized, controlled trials

The Minnesota FOBT Trial demonstrated a reduction in

col-orectal cancer mortality of 33.4% and 21%, respectively, for

annual and biennial FOBT screening followed bycolonoscopy for anyone with a positive screening test(Bond, 2002) When the data were analyzed just for thosewho complied with all recommended screening, annual

FOBT screening resulted in a 45% colorectal cancer

mor-tality reduction This is an important number because it is

the benefit that clinicians can inform their patients to expect

if they comply with recommended screening Furtherfollow-up in the Minnesota Trial also demonstrated a sig-nificant reduction in colorectal cancer incidence in thosescreened annually, presumably as the result of detection andresection of advanced adenomatous polyps AlthoughFOBT screening has been disparaged by many proponents

of alternative methods, it does have a number of proven

advantages A program of annual screening, using a

rea-sonably sensitive FOBT (ie, HemoccultSensa guaiac cards[Beckman-Coulter, Palo Alto, CA] or one of the newerimmunochemical FOBTs) followed by colonoscopy for apositive result, detects most colorectal cancers and manyadvanced adenomas Screening reduces both colorectal can-cer mortality and incidence and is feasible, widely available,and generally acceptable to patients Furthermore, thisoption of screening has a very low upfront cost.Disadvantages of FOBT screening include low sensitivityfor polyps, especially smaller ones, and a relatively highfalse-positivity rate for advanced neoplasia In addition, to

be effective, relatively frequent screening is required

Colorectal Polyp and Cancer Screening / 543

FLEXIBLESIGMOIDOSCOPY

Flexible sigmoidoscopy screening also has a number of

important advantages It detects most colorectal cancers

and many advanced adenomas An analysis from the

Veterans Affairs Multicenter Colonoscopy Screening Study

indicated that a single screening flexible sigmoidoscopy

would detect about 70 to 80% of all advanced colorectal

neoplasia, provided that those who have a left-sided

neo-plasm detected undergo subsequent full colonoscopy

(Lieberman and Weiss, 2001) Flexible sigmoidoscopy can

be performed by trained, experienced examiners accurately,

safely, and quickly following a simple bowel preparation

The procedure is generally well tolerated by patients, and

has been shown in cohort and case-control studies to

reduce mortality from colorectal cancer within its reach by

60 to 80% These studies also indicate that the protective

effect of a single examination lasts for 5 to 9 years;

there-fore, infrequent screening is possible

COMBINATIONFOBT PLUSFLEXIBLESIGMOIDOSCOPY

The combination of annual FOBT screening plus flexible

sigmoidoscopy every 5 years largely corrects the limitations

of doing either method of screening alone The FOBT

misses many polyps and has been shown to be relatively

insensitive for distal rectosigmoid cancers When performed

annually, however, it will detect most colorectal cancers

before they become incurable The flexible sigmoidoscopy

is highly accurate in the high risk left colon, but will miss up

to 30% of proximal advanced neoplasia in patients who do

not have a synchronous distal polyp or cancer

BARIUMENEMAScreening DCBE, although included in the menu of guide-

line options, is not used much for screening in the United

States and has not been directly studied for this purpose

Furthermore, DCBE recently has been shown to be

rela-tively insensitive for detecting advanced neoplasia A

ret-rospective study by Rex and colleagues (1997) showed that

about 15% of colorectal cancers are missed by barium

enema examination The National Polyp Study performed

back-to-back DCBE and colonoscopy on 580 patients

undergoing postpolypectomy surveillance and showed that

the sensitivity of this method for detecting large polyps (≥

1 cm) was only 48% (Winawer et al, 2000) For these

rea-sons, when this method is used for screening, the

guide-lines recommend a screening interval of 5 years.

THREE-DIMENSIONALVIRTUALCOLONSCOPY

A recent New England Journal of Medicine editorial

sug-gested that three-dimensional computed tomography (CT)

scanning and reconstruction may be a consideration for

screening in the near future The article by Pickhardt and

colleagues (2003) described 1233 asymptomatic adults whounderwent a new sophisticated 3-dimensional virtualcolonoscopy and same-day conventional colonoscopy Morethan 97% were at average risk for colorectal neoplasmia.The sensitivity and specificity of virtual colonoscopy foradenomatous polyps was comparable to standardcolonoscopy, 94% and 96% respectively for adenomatouspolyps > 10 mm on virtual colonoscopy The sensitivity forpolyps at least 6 mm was 88.7% Only two cancers werefound, both on virtual colonoscopy, and only one was found

on standard colonoscopy until results of the virtualcolonoscopy were revealed Although this study should berepeated to verify the results, its findings appear to be abreakthrough in the use of virtual three-dimensionalcolonoscopy As the editorial asks: Is it ready for prime time?

COLONSCOPYSCREENING

Increasingly in the United States, direct colonoscopy

screen-ing has become the overwhelmscreen-ing preference of

gastroen-terologists and many others In the broad area of preventivescreening, this option is somewhat of a perturbation of theclassic definition of a screening test Instead of performing

a simple, acceptable, inexpensive and indirect test to tify those in the healthy at-risk population who might ben-efit from further examination, we are substituting upfront

iden-a highly definitive, complex, expensive iden-and somewhiden-at inviden-a-sive, diagnostic and therapeutic method Direct screeningcolonoscopy, however, is now being increasingly champi-oned by physician and patient groups because it detectsalmost all cancers and advanced adenomas, and it allowsfor resection of most polyps during a single sitting Thus

inva-it is the most effective way of achieving both the majorgoals of colorectal cancer screening—cancer preventionthrough polypectomy and reduced mortality through thedetection of early cancers Because of colonoscopy’s greataccuracy and the relatively long natural history of the

adenoma-carcinoma sequence, infrequent screening (every

10 years) is possible The VA Multicenter Colonoscopy

Screening Study demonstrated that, when performed bywell-trained experienced colonoscopists, colonoscopyscreening is feasible and very safe (Nelson et al, 2002).Although there are no randomized controlled trials ofscreening colonoscopy, compelling indirect evidence sug-gests that this approach is very effective at reducing boththe incidence and mortality of colorectal cancer For exam-ple, colonoscopy and polypectomy in the National PolypStudy cohort reduced colorectal cancer incidence by up to90%; there are a number of supportive case-control stud-ies of both flexible sigmoidoscopy and colonoscopy, andthe FOBT trials effected their demonstrated reduction ofcancer incidence and mortality by doing colonoscopy onthose with a positive screen Limitations of direct screen-ing colonoscopy that have not yet been satisfactorilyaddressed include questions of risk, cost, patient accept-

ability, and capacity Conscious sedation usually is required

with its attendant risk, cost, and inconvenience A screen

requires the better part of 2 days to complete the bowel

purg-ing preparation, the examination, and recovery Although

screening colonoscopy has been shown to be safe when

per-formed by experienced physicians, I still have concerns about

both the accuracy and risk of this option when it is carried

out in increasing numbers by less experienced examiners

Last, the great demand for screening colonoscopy already

shows signs of overwhelming the capacity to perform these

additional examinations In some parts of the country, long

waiting times to have a screening colonoscopy may be

diminishing the attractiveness or practicality of this option

My Preference for Screening the

Average-Risk Population

Although ideal, due to time constraints and other issues, it

is not feasible for each physician to present to every patient

the advantages and disadvantages of five screening options

Rather, I believe that each individual health care delivery

sys-tem (large and small) needs to evaluate its resources and

capacity to screen, and then choose one or two options for

its patients Due to limited colonoscopy capacity in my

insti-tution, my current screening practice is still a program of

annual FOBTs plus flexible sigmoidoscopy every 5 years

Colonoscopy is performed, of course, whenever there is a

positive screen, a patient has signs or symptoms possibly due

to colorectal cancer, or a patient is identified as being

above-average risk It is my opinion that neither FOBT alone or

flexible sigmoidoscopy alone is a satisfactory way to screen

because of their appreciable miss rates for advanced

neo-plasia Because of its low sensitivity and specificity, I would

not consider DCBE as an acceptable screening option

If resources and capacity exist, my preference for

col-orectal cancer screening is direct colonoscopy performed

by a well-trained, experienced endoscopist Colonoscopy

clearly is the only screening method capable of fulfilling

most of the criteria of an ideal screening test.* It is

feasi-ble, acceptable and safe, and it accurately detects almost all

cancers and advanced adenomas It allows for biopsy of

suspicious lesions and immediate resection of advanced

adenomas throughout the colon, all at a single sitting with

a single bowel cleansing preparation Although relatively

expensive, it is cost effective and infrequent screening is

possible (Wagner et al, 1996) Anyone who undergoes

direct colonoscopy screening as recommended by the

guidelines should have a very low chance of developing

or dying from colorectal cancer, the second most common

cancer killer of Americans

*Editor’s Note: Virtual colonoscopy, three-dimensional CT scan

reconstructions are being used for patients in whom a complete

colonoscopy is not possible As the techniques improve, this

proce-dure may assume a role in colorectal cancer screening.

Supplemental ReadingBond JH Clinical evidence for the adenoma-carcinoma sequence, and the management of patients with colorectal adenomas Semin Gastrointest Dis 2000;11:176–84.

Bond JH Fecal occult blood test screening for colorectal cancer Gastrointest Clin N Am 2002;12:11–22.

Bond JH, for the Practice Parameters Committee of the American College of Gastroenterology Polyp guideline: diagnosis, treatment, and surveillance for patients with colorectal polyps.

Am J Gastroenterol 2000;95:3053–63.

Lieberman DA, Weiss, DG, for the VA Cooperative Study Group

380 One-time screening for colorectal cancer with combined fecal occult blood testing and examination of the distal colon.

Pickhardt PJ, Choi R, Hwang I, et al Computed tomographic virtual colonoscopy to screen for colorectal neoplasia in asymptomatic adults N Engl J Med 2003;349:2191–200 Pigone M, Rich M, Teutsch SM, et al Screening for colorectal cancer in adults at average risk: summary of the evidence for the U.S Preventive Services Task Force Ann Intern Med 2002;137:132–41.

Rex, DK, Rahmani EY, Haseman JH, et al Relative sensitivity of colonoscopy and barium enema for detection of colorectal cancer in clinical practice Gastroenterol 1997;112:17–23 Smith RA, von Eschenbach AC, Wender R et al American Cancer Society guidelines for the early detection of cancer: update

of early detection guidelines for prostate, colorectal, and endometrial cancers CA Cancer J Clin 2001;51:38–75 Wagner J, Tunis S, Brown M, et al The cost effectiveness of colorectal cancer screening in average risk adults In: Young G, Rozen P, Levin B, editors Prevention and early detection of colorectal cancer Philadelphia: WB Saunders; 1996 p 321–56 Winawer SJ, Fletcher RH, Rex D, et al Colorectal cancer screening and surveillance: clinical guidelines and rationale based on new evidence Gastroenterol 2003;124:544–60.

Winawer SJ, Stewart ET, Zauber AG, et al A comparison of colonoscopy and double-contrast barium enema for surveillance after polypectomy N Engl J Med 2000;342:1766–72.

Winawer SJ, Zauber AG, Ho MN, et al Prevention of colorectal cancer by colonoscopic polypectomy: The National Polyp Study Workgroup N Engl J Med 1993;329:1977–81.

544 / Advanced Therapy in Gastroenterology and Liver Disease

examination may be performed to look for stigmata of

a hereditary syndrome, and medical management

rec-ommendations are provided

3 Genetic Testing Strategy: Genetic testing is usually

most informative when it begins with an individual

affected with the cancer of interest, since most genetic

tests are not 100% sensitive (Figure 94-1) By testing

the affected person first, he or she serves as a “control”

for genetic testing in the family If a positive result is

obtained, then the family mutation is known and

definitive test information can be given to at-risk

fam-ily members If no mutation is found in an affected

family member, the result is considered to be

incon-clusive and genetic testing of at-risk relatives is not

usu-ally feasible

4 Cost and Insurance Coverage: Full gene sequencing is

the gold standard for genetic testing, and the expense

depends upon the gene analyzed Gene sequencing for

the first family member typically costs between $1,000

and $2,500 Once a mutation is identified, other

fam-ily members are tested for only the specific mutation

Such targeted analysis usually costs $150 to $400 Many

insurance companies cover at least a portion of the cost

of genetic testing if the family history is reasonably

sug-gestive of a hereditary syndrome However, patients

should consider obtaining insurance authorization

prior to testing This often requires a letter of medical

necessity from the requesting health care provider,

accompanied by diagnostic and testing codes

5 Psychosocial Issues: A variety of emotions surround

genetic testing Patients who test positive may

experi-ence fear, depression, anger, pessimism, or shock, and

some feel guilt for potentially passing the mutation to

offspring Others express relief that the cause of their

cancer was identified, or that cancer risk is better

defined Patients who test negative often experience

relief and happiness However, some feel guilty for

hav-ing been spared (“survivor guilt”), whereas othersexpress disbelief The most common reaction frompatients who receive inconclusive test results is disap-pointment, though some are falsely reassured because

a definitive mutation was not detected Importantly,

genetic testing potentially affects an entire family, and

could have positive or negative effects on familial tionships

rela-6 Genetic Discrimination:* Genetic discrimination mayoccur with health, life, or disability insurance, or in theworkplace Currently, the Health Insurance Portabilityand Accountability Act (HIPAA) protects patients whohave health insurance through group plans However,there is no federal legislation offering protection forhealth insurance purchased in the individual market,

or for life and disability coverage

7 Informed Consent: Before testing, the risks, benefitsand limitations of the test must be thoroughly dis-cussed with the patient This includes potential impli-cations of a positive, negative, or inconclusive testresult, as well as alternatives to genetic testing Writteninformed consent is obtained from adults, and assent

is obtained from children

8 Follow Up: A written summary of the consultation issent to the patient and the referring provider Otherfollow-up responsibilities may include identification

of support resources, coordination of genetic seling for family members, and patient enrollment in

coun-a resecoun-arch registry If genetic testing is performed, closure of genetic test results is performed in person,paying particular attention to medical and psychoso-cial implications

dis-*Editor’s Note: Concern over genetic discrimination is still an important issue to some patients that requires personal discussion.

FIGURE 94-1 Flowchart for use of genetic testing to determine screening of at-risk individuals.

Colonic Neoplasia: Genetic Counseling / 547

Hereditary CRC Syndromes

To date, six hereditary syndromes are known to strongly

predispose to CRC The clinical characteristics and genetic

features of each are outlined in Table 94-1 This section will

overview genetic testing for each syndrome, and discusses

the potential effects of testing on medical management

within a family Management of colorectal polyps and

poly-posis syndromes is discussed in the next chapter (see

Chapter 95,“Colorectal Polyps and Polyposis Syndromes”)

Hereditary Nonpolyposis CRC

Families that meet the Amsterdam criteria have a clinical

diagnosis of hereditary nonpolyposis colorectal cancer

(HNPCC) (Table 94-2) Testing of an affected family

mem-ber begins with germline analysis of MLH1 and MSH2;

mutations in these genes account for 90% of mutations

detected in this disorder Starting with germline testing is

often appropriate for individuals meeting one of the first

three Bethesda criteria (Table 94-3) Approximately 60%

of Amsterdam-positive families will have a mutation in one

of these two genes If no mutation is found in MLH1 and

MSH2, testing of MSH6 may be beneficial No commercial

testing for PMS1 or PMS2 exists For individuals with

HNPCC by clinical criteria or genetic analysis, annualcolonoscopy begins at age 25 years, or 5 to 10 years beforethe earliest CRC diagnosis in the family, whichever isyounger Women should have annual transvaginal ultra-sound with consideration of endometrial biopsy and/orserum CA-125 If a family HNPCC mutation is identified,any biological relatives who have this mutation should

TABLE 94-1 Hereditary Colorectal Cancer Syndromes: Clinical Characteristics and Genetic Features

(Muir-MSH6, PMS1, stomach, urinary tract, biliary tract (all < 10%), Torre variant), café-au-lait spots,

carcinoma (Muir-Torre variant, < 1%)

abnormalities, desmoid tumors (10%), epidermoid cysts, CHRPEs,

adenomas, dental abnormalities

(Ashkenazi Jewish

Population)

hemorrhagic telangiectasias

AD = autosomal dominant; AFAP = attenuated familial adenomatous polyposis; AR = autosomal recessive; FAP = familial adenomatous polyposis; HNPCC = hereditary nonpolyposis colorectal cancer; JPS

= juvenile polyposis; PJS = Peutz-Jeghers syndrome.

TABLE 94-2 Amsterdam Criteria: Families That Meet All Criteria Have a Clinical Diagnosis of Hereditary Nonpolyposis Colorectal Cancer

Three relatives with colorectal cancer (one a first-degree relative of the other two) Two or more generations of colorectal cancer

One or more cases of colorectal cancer diagnosed before age 50 years Familial adenomatous polyposis is excluded

Colonic Neoplasia: Genetic Counseling / 549

with PJS by clinical criteria or by genetic analysis, biennial

colonoscopy, upper endoscopy, and small bowel series,

should begin at age 12 years At age 18 years, affected females

should begin annual gynecologic exams with transvaginal

ultrasound and CA-125 At age 25 years, affected patients

should begin computed tomography scans or endoscopic

ultrasound every 1 to 2 years, and females should undergo

yearly clinical breast examination with mammography If a

family PJS mutation is identified, any biological relatives

who have this mutation should undergo surveillance as

described above Those relatives without the family

muta-tion are unaffected and can follow general populamuta-tion

screening guidelines If genetic testing is inconclusive (no

mutation is detected in an affected person or no affected

person has undergone genetic testing), the individual

should be screened as though affected

Juvenile Polyposis

Diagnostic clinical criteria for juvenile polyposis (JPS)

include more than five colorectal juvenile polyps or

multi-ple juvenile polyps throughout the GI tract or any number

of juvenile polyps plus a family history of JP Approximately

25% of cases are de novo mutations without a family

his-tory Therefore, genetic testing should begin with an affected

individual Mutations of the BMPR1A gene are found in

25%, and of the SMAD4 gene in 20%, of cases Testing of

the two genes via full sequencing may be sequential or

con-current For family members with JPS by clinical criteria or

genetic analysis, surveillance should begin at age 15 years

(or at symptom onset, whichever is earlier) and should

include complete blood count, colonoscopy and upper

endoscopy every 3 years Colectomy is recommended if the

number of polyps becomes unmanageable via colonoscopic

removal If a family JPS mutation is identified, any

biolog-ical relatives who have this mutation should undergo

sur-veillance as described above Those relatives without the

family mutation are unaffected and can follow general

pop-ulation screening guidelines If genetic testing is

inconclu-sive (no mutation is detected in an affected person or no

affected person has undergone genetic testing), the vidual should be screened as though affected

indi-Future Directions

A number of genes responsible for hereditary CRC disposition have been identified, and genetic testing hasbeen implemented in a variety of settings to influencemedical management However, likely 10 to 30% of CRC

pre-is familial, caused by the interaction of lower penetrancegenes with environmental factors Investigation contin-ues to identify such genes through family studies.Although the currently known syndromes are autosomaldominant, future discoveries may be recessive Recently,

mutations of the MYH1 gene, a base excision repair gene,

appear to be associated with the autosomal recessivedevelopment of multiple colorectal adenomas, similar tothe colonic manifestations of attenuated FAP and/or FAP.Commercial testing for mutations in this gene is cur-rently unavailable

Supplemental ReadingAmerican Gastroenterology Association Medical Position Statement: Hereditary colorectal cancer and genetic testing Gastroenterol 2001;121:195–7.

American Society of Clinical Oncology Policy Statement Update Genetic testing for cancer susceptibility J Clin Oncol 2003;21:2397–406.

Sollenberger JE, Griffin CA Genetic testing and counseling In: Barker

LR, Burton JR, Zieve PD, editors Principles of ambulatory medicine 6th ed Philadelphia, PA: Lippincott Williams and Wilkins; 2003 p 217–24.

Trimbath JD, Giardiello FM Genetic testing and counseling for hereditary colorectal cancer Aliment Pharmacol Ther 2002;16:1843–57.

Colorectal Polyps and Polyposis Syndromes / 551

known associated genetic mutations that allow for specific

genetic testing to confirm a suspected diagnosis There is a

separate chapter on colonic neoplasia and genetic

counsel-ing (see Chapter 94, “Colonic Neoplasia: Genetic

Counseling”) The best known and characterized of these

syndromes is FAP, however, the clinician must be aware of

several other syndromes Diseases, such as Cowden

syn-drome, can have a subtle presentation and only recognized

by astute observation The polyposis syndromes are

impor-tant to correctly identify and diagnose for several reasons

First, patients are at increased risk not only for CRC, but

also for several other GI cancers and even extra-GI cancers

Second, because of the high associated cancer risks, certain

cancer surveillance recommendations and prophylactic

therapies apply to this population of patients Finally, the

hereditary nature of most of these disorders allows for

presymptomatic diagnosis in other family members

Management of patients with polyposis often involves

a multidisciplinary approach secondary to the

complex-ity of management decisions We frequently consult and

involve several other specialties in addition to

gastroen-terology and genetic counseling, including surgery,

gyne-cology, and dermatology

Although several other polyposis conditions exist,

including Cronkite-Canada syndrome, lymphomatous

polyposis, nodular lymphoid hyperplasia, and lipomatous

polyposis, these are beyond the scope of this chapter and

will not be discussed

FAP

The striking number of adenomatous polyps that often

carpet the colon and the 100% lifetime risk of CRC

char-acterize FAP The average age of colorectal polyp

forma-tion is 16 years and of CRC is 39 years (Burt and Jacoby,

2003) The adenomatous polyposis coli (APC) gene is

mutated in FAP, and patients inherit the disease in an

auto-somal dominant fashion, though about one-third of

patients have no known family history and presumably are

new mutation carriers The frequency of FAP in the

gen-eral population is about 2 to 3 in every 100,000 persons;

the disease accounts for <1% of all CRCs

The diagnosis of classical FAP is often clinically

appar-ent due to the profound phenotype these patiappar-ents have

The number of colonic polyps in FAP can vary from

fam-ily to famfam-ily and even within families, although, typically,

the numbers are in the thousands in fully expressed

dis-ease (Burt and Jacoby, 2003) The polyps are

characteristi-cally adenomatous and are usually small (<1cm) In the

upper GI tract, polyps can line the entire stomach Polyps

in the corpus and fundus are usually fundic gland polyps,

though adenomatous polyps can arise in these locations as

well Polyps in the antrum tend to be adenomatous and,

therefore, deserve special attention Duodenal polyps are

usually adenomatous and have a predilection for the

duo-denal papilla As a consequence, cancers on or around thepapilla are the most frequent GI cancers in FAP patientswho have had a colectomy Polyps in other areas of thesmall bowel (SB) are less frequent, but are known to occur

in FAP and exhibit an associated risk of SB cancer.Besides GI manifestations, patients with FAP have sev-eral other clinical findings These include benign growthswith little clinical significance, such as osteomas (bony cystsfound usually in the mandible, skull), abnormal dentition,congenital hypertrophy of the retinal epithelium and sev-eral skin findings, especially epidermoid cysts and fibro-mas Other extra-intestinal manifestations, however, canhave more important clinical implications Desmoidtumors are benign growths of fibrous tissue that can occurintra-abdominally or extra-abdominally Though not inva-sive, desmoid tumors can enlarge and impinge on adjacentstructures, such as bowel, vasculature, and nerves, caus-ing a high degree of morbidity The phenotype of FAPvaries in different families and has been associated with the

different mutation locations within the APC gene.

Associated malignancies besides colon cancer (although allexhibit <a 2% lifetime risk), include SB cancer, stomachcancer, pancreatic cancer, thyroid cancer, hepatoblastoma(mostly in children), brain cancer, adrenal carcinomas, and,rarely, biliary tract cancers

Variants of FAP include Gardner’s syndrome, Turcot’ssyndrome (TS) and attenuated adenomatous polyposis coli(AAPC) The former is associated with several extra-intestinal growths, such as desmoids, fibromas, and osteo-mas TS is associated with FAP together with centralnervous system tumors in about two-thirds of families.Interestingly, the other one-third have hereditary non-polyposis CRC AAPC will be described later

Management of patients with FAP focuses on severalimportant clinical decisions, including treatment optionsand cancer surveillance Though colectomy is indicated

as prophylaxis to prevent the otherwise inevitable opment of CRC, the age to perform the surgery and whatsurgery to perform can be potential issues We usually waituntil patients are postadolescence before performing colec-tomy as the psychosocial impact tends to be less significant

devel-at ldevel-ater ages although sometimes polyp severity requiresearlier surgery Surgical options include total colectomywith ileal pouch-anal anastamosis (IPAA) and subtotalcolectomy The latter procedure leaves a rectal remnant thatrequires periodic endoscopic examinations and polyp abla-tion Total colectomy with IPAA removes the rectal mucosa,though there is potential to develop ileal polyps (usuallylymphoid hyperplasia, but sometimes adenomas) war-ranting periodic surveillance of the terminal ileum.Duodenal polyps can pose therapeutic challenges to theendoscopist and surgeon Smaller ampullary tumors can

be managed endoscopically with papillectomy However,larger lesions need to be removed surgically Gastric polyps

552 / Advanced Therapy in Gastroenterology and Liver Disease

(Figure 95-1) are usually fundic gland polyps, but some can

be adenomatous and require removal We usually remove

larger polyps (>1 cm), antral polyps or polyps that appear

endoscopically unique from the other polyps, including

those that are reddish in appearance (Figure 95-2)

Medical management has a potential role in controlling

adenomas Nonsteroidal anti-inflammatory drugs and

selective cyclooxygenase-2 inhibitors have both been shown

to reduce the number of colorectal polyps in patients with

FAP (Giardiello et al, 1993; Steinbach et al, 2000) and may

be used to assist in management in patients who have a

remaining rectum

Because patients with FAP are at higher risk for several

malignancies, regular surveillance for malignancy is

rec-ommended and is important not to overlook Tables 95-1

and 95-2 outline the suggested surveillance strategies and

intervals for each of the potential malignancies in FAP

(McGarrity et al, 2000)

AAPC (Also Attenuated FAP)

Unlike FAP, the clinical presentation in AAPC can be lessstriking and the diagnosis more difficult without genetic

testing AAPC also is due to a mutation in the APC gene,

but typically more on the extreme 3´ and 5´ ends of thegene or in exon 9 (Burt and Jacoby, 2003) As the nameimplies, patients present with fewer polyps and at a laterage, both in terms of polyps and cancers Whereas 100colon polyps are usually required to make the diagnosis ofFAP, polyp numbers in AAPC can range from 5 to 100(average 30), and the numbers can vary amongst individ-uals within the same family The polyps tend to be moreproximal colonic, which is important to remember whenconsidering endoscopic screening of at-risk individuals forthe disease A high index of suspicion is needed to makethe diagnosis and AAPC should be suspected when patientspresent with multiple polyps at a young age, especially with

a compatible family history An important observation isthat the manifestations in the upper GI tract tend not to

be attenuated and can assist in confirming a clinical picion

sus-Our management of patients with AAPC differs icantly with classical FAP in certain regards First of all, theindication for colectomy is not as universal Many patientscan be managed endoscopically with periodic colonoscopyand polypectomies (see Tables 95-1 and 95-2) Colectomy

signif-FIGURE 95-1 Carpeting of polyps in the stomach of a patient with

familial adenomatous polyposis The vast majority of these are fundic

gland polyps.

FIGURE 95-2 A large sessile tubulovillous adenoma beneath the

gas-troesophageal junction in a patient with familial adenomatous polyposis

TABLE 95-1 Risk and Surveillance Recommendations for the Polyposis Syndromes

Lifetime Risk of Screening Syndrome Colon Cancer Recommendations Familial adenomatous Near 100% Sigmoidoscopy annually, polypopsis gene carrier* beginning at 10 to 12 years †

Peutz-Jeghers 2 to 13% ‡ Colonoscopy, beginning with syndrome symptoms, or in late teens, if

no symptoms occur Interval determined by number of polyps but a least every 3 years once begun.

Juvenile polyposis May be as high Colonoscopy, beginning with

as 50% symptoms or in early teens if no

symptoms occur Interval determined by number of polyps but at least every 3 years once begun.

Cowden syndrome Little, if any No recommendations give

Reprinted from Burt RW, 2000, with permission from the American Gastroenterological Association.

*Includes the subcategories of familial adenomatous polyposis, Gardner syndrome, Turcot drome, and attenuated adenomatous polyposis (AAPC).

syn-† In AAPC colonoscopy should be used instead of sigmoidoscopy because of the preponderance

of proximal colonic adenomas Colonoscopy screening in AAPC should probably begin in the late teens or early 20s.

‡ Risk estimates are for all gastrointestinal malignancies, including colon.

554 / Advanced Therapy in Gastroenterology and Liver Disease

tomas have also been found in the large intestine of PJS

patients Polyps are most frequent in the SB, but can

develop anywhere in the GI tract as follows: (1) SB, 96%;

(2) colon, 27%; (3) stomach, 24%; and (4) rectum, 24%

(McGarrity et al, 2000)

Patients with PJS typically have several potential

com-plications from hamartomatous polyps Not only is

malig-nant transformation a concern, but the polyps can also

ulcerate, bleed, infarct, and intussuscept After the age of

30 years, malignant complications become the major

con-cern; by the age of 65 years, over 90% of patients will have

a malignancy The most common GI cancers include colon,

with a lifetime risk of 39%, pancreatic, with a lifetime risk

of 36%, gastric, and SB (Giardiello et al, 2000) Non-GI

malignancies include breast (54% lifetime incidence),

ovar-ian (21% lifetime incidence), Sertoli cell tumors (9%

life-time incidence with 10 to 20% becoming malignant), and

lung (15% lifetime incidence)

Because of the associated morbidity of large polyps in

PJS and the potential malignant transformation, patients

with PJS require regular surveillance as outlined in Tables

95-1 and 95-2 The high rate of extra-intestinal cancers also

deserves attention with regular examination of potentially

involved organs Specific symptoms require special

atten-tion and should lead to an aggressive workup to exclude a

malignant cause Many of the surveillance

recommenda-tions in polyposis syndromes are empiric and risk-based

rather than evidence-based, as appropriate evidence is

dif-ficult to obtain in rare conditions The role of potentially

valuable surveillance methods, such as endoscopic

ultra-sound for pancreatic cancer for instance, has not been

examined in this clinical scenario

Management of polyps in PJS can be clinically

chal-lenging We recommend regular surveillance for GI tract

polyps as outlined in the tables When polyps are

encoun-tered on routine endoscopy, we remove all of them if

pos-sible When the colon polyp burden is too difficult to

control endoscopically, then referral for subtotal colectomy

should be offered Polyps in the SB can pose a different

chal-lenge If polyps are particularly large (>1 cm) or causing

symptoms, we recommend removal either endoscopically,

if amenable, or surgically In the latter case, consideration

for intraoperative endoscopy should be given

Juvenile Polyposis

Juvenile polyposis (JP) is another polyposis syndrome

inherited as an autosomal dominant disease Juvenile

polyps characterize this disease, though this type of polyp

can be found in otherwise normal children The clinical

criteria for the diagnosis of JP include: (1) at least five

juve-nile polyps in the colorectum, (2) juvejuve-nile polyps

through-out the GI tract, and (3) any number of juvenile polyps in

a person from a family with known JP The syndrome is

due to genetic mutations in SMAD 4 (15% of families) or

BMP1R (38% of families) The remainder of clinically

diag-nosed JP families have unknown genetic mutations.Genetic testing is available for JP Histologically, the sur-face mucosa is nondysplastic with abundant lamina pro-pria There are elongated, benign cystically dilated glandsthat lack a smooth muscle core Endoscopically, polyps areusually round, reddish and smooth and often they have awhite exudate on their surface (Figure 95-3) On cut sur-face, the polyps contain cystic spaces filled with mucin Thesurface mucosa is nondysplastic with abundant laminapropria There are elongated, benign cystically dilatedglands that lack a smooth muscle core

Like PJS, polyps can occur throughout the GI tract, but

in JP they are most common in the colon They can bleed,infarct or intussuscept with subsequent obstruction GImalignancy is believed to arise from juvenile polyps.Lifetime risk of colon cancer has been reported to be ashigh as 68% Cancers in other organs, including stomach,duodenum, and the pancreaticobiliary tree, have been asso-ciated with JP

Cancer surveillance is recommended as summarized inTables 95-1 and 95-2 Polyp management can be doneendoscopically, though sometimes surgery is necessarywhen the polyp burden becomes too high This appliesmainly to colon polyps, but possibly the upper GI tract aswell

Cowden Syndrome

Cowden syndrome (CS), also called multiple hamartomasyndrome, is a syndrome characterized by cutaneous find-ings, in addition to polyposis, and a significant risk fordevelopment of extra-intestinal malignancy The disease is

associated with a mutation in the PTEN/MMAC1 gene on

chromosome 10 that is found in about 80% of patients

FIGURE 95-3 A typical polyp in juvenile polyposis characterized by

a white exudate on the polyp surface.

meeting strict Consortium criteria for the syndrome.

Diagnostic criteria have been published (Eng, 2000) and

include mucocutaneous lesions (facial trichilemmomas,

acral keratoses, papillomatous papules), malignancies

(breast, thyroid, and endometrial) and GI findings

(hamar-tomas of the stomach, SB, and colon and glycogen

acan-thosis in the esophagus) (Figures 95-4 and 95-5) The

hamartomas include juvenile polyps, lipomas, and

gan-glioneuromas Juvenile polyps are the most common and,

characteristically, contain neural elements Two variants of

CS have been described Bannayan-Riley-Ruvalcaba

syn-drome is associated with typical CS findings and

macro-cephaly, delayed psychomotor development, lipomatosis,

hemangiomatosis, and pigmented macules of the glans

penis Lhermitte-Duclos disease is characterized by

hamar-tomatous growths in the cerebellum

GI malignancy risk is not well defined in this population,though colon cancer risk appears to be slightly above thegeneral population (9%) Particularly concerning, however,

is the lifetime risk of breast cancer (25 to 50%), thyroid cer (10%), and endometrial cancer (2 to 5%) Although nospecific screening recommendations exist for GI cancers,surveillance for extra-intestinal malignancies is recom-mended and summarized in Tables 95-1 and 95-2 In ourinstitution, we generally perform an initial colonoscopy andcontinue surveillance depending on the number of polyps

can-Hyperplastic Polyposis

Although hyperplastic polyps are a common finding, cially in the distal colon and rectum, hyperplastic poly-posis (HP) is a unique clinical entity with a predisposition

espe-to develop numerous hyperplastic polyps in all colon ments Clinical criteria for the diagnosis of HP include (1)

seg-at least 5 hyperplastic polyps proximal to the sigmoidcolon, 2 of which need to be >1cm, (2) any number ofhyperplastic polyps proximal to the sigmoid colon in anindividual with a first-degree relative with HP, and (3) >

30 hyperplastic polyps of any size, but distributed out the colon (Burt and Jass, 2000)

through-HP is not as well characterized as the other polyposissyndromes Although families have been described with HP,little is known of the hereditary attributes of the disease.There is no available genetic testing for this condition.Typically, the hyperplastic polyps predominate, how-ever, patients can also have serrated adenomas, pure ade-nomas, or mixed adenomas and hyperplastic polyps CRChas been associated with HP, though the lifetime risk is notclear (Leggett et al, 2001)

Because of the risk of colorectal neoplasms, we mend routine colonoscopic surveillance in these patientswith an attempt to control the polyp burden endoscopi-cally Intervals between colonscopies vary from individ-ual to individual and are largely determined by polypburden, presence of adenomas and family history.However, when the polyp burden is difficult to manage,especially in the coexistence of adenomas, we recommendsubtotal colectomy

recom-Summary

Colorectal polyps, including adenomas, are commonamong the general population and are precursors of CRC.Appropriate screening for colon polyps and subsequentremoval results in a decrease in CRC incidence Identifyingthose at high risk for the subsequent development of ade-nomas, especially, advanced adenomas, is important indetermining appropriate surveillance strategies

Differentiating between spontaneous polyps and polypsthat develop in the setting of polyposis syndromes has impor-tant implications for patient management The polyposis syn-

FIGURE 95-4 Glycogen acanthosis, a characteristic finding in the

esophagus of a patient with Cowden syndrome.

FIGURE 95-5 Multiple sessile polyps in the rectosigmoid colon in

a patient with Cowden syndrome.

Colorectal Polyps and Polyposis Syndromes / 555

556 / Advanced Therapy in Gastroenterology and Liver Disease

dromes have a large spectrum of clinical presentations and

often the gastroenterologist is the first to make the

diagno-sis After suspecting the diagnosis of a polyposis syndrome,

the physician must initiate a management plan that is often

multifaceted and complex Patients should undergo

appro-priate genetic counseling and testing, regular cancer

surveil-lance and should understand their therapeutic options The

appropriate testing of family members is also an intricate part

of management Although they represent a small fraction of

CRC cases, the polyposis syndromes have contributed greatly

to our understanding of colorectal tumorigenesis

Supplemental Reading

Burt RW Colon cancer screening Gastroenterology 2000;119:837–53.

Burt RW, Jacoby RF Polyposis syndromes In: Yamada T, Alpers DH,

Kaplowitz N, et al, editors Textbook of gastroenterology Vol 2.

4th ed Philadelphia: Lippincott Williams & Wilkins; 2003 p.

1914–39.

Burt R, Jass J Hyperplastic polyposis In: Hamilton SR, Aaltonen LA,

editors WHO international classification of tumors: pathology

and genetics of tumors of the digestive system 3rd ed Berlin:

Springer-Verlag; 2000 p 135–6.

Eng C Will the real Cowden syndrome please stand up: revised

diagnostic criteria J Med Genet 2000;37:828–30.

Giardiello FM, Brensinger JD, Tersmette AC, et al Very high risk

of cancer in familial Peutz-Jeghers syndrome Gastroenterology

2000;119:1447–53.

Giardiello FM, Hamilton SR, Krush AJ, et al Treatment of colonic

and rectal adenomas with sulindac in familial adenomatous

polyposis N Engl J Med 1993;328:1313–6.

Johns LE, Houlston RS A systematic review and meta-analysis of familial colorectal cancer risk Am J Gastroenterol 2001;96: 2992–3003.

Leggett BA, Devereaux B, Searle J, Jass J Hyperplastic polyposis association with colorectal cancer Am J Surg Pathol 2001; 25:177–84.

McGarrity TJ, Kulin HE, Zaino RJ Peutz-Jeghers syndrome Am

J Gastroenterology 2000;95:596–604.

Steinbach G, Lynch PM, Phillips RK, et al The effect of celecoxib,

a cyclooxygenase-2 inhibitor, in familial adenomatous polyposis N Engl J Med 2000;342:1946–52.

Van Stolk RU, Beck GJ, Baron JA, et al Adenoma characteristics

at first colonoscopy as predictors of adenoma recurrence and characteristics at follow-up Gastroenterology 1998;115:13–8 Winawer S, Fletcher R, Rex D, et al Colorectal cancer screening and surveillance: clinical guidelines and rationale-update based on evidence Gastroenterology 2003;124:544–60 Winawer SJ, Stewart ET, Zauber AG, et al A comparison of colonoscopy and double-contrast barium enema for surveillance after polypectomy N Engl J Med 2000;342:1766–72.

Winawer SJ, Zauber AG, Ho MN, et al Prevention of colorectal cancer

by colonoscopic polypectomy N Engl J Med 1993;329:1977–81 Winawer SJ, Zauber AG, O’Brien MJ, et al Randomized comparison

of surveillance intervals after colonoscopic removal of newly diagnosed adenomatous polyps N Engl J Med 1993;328:901–6 Young GP, Macrae FA Neoplastic and nonneoplastic polyps of the colon and rectum In: Yamada T, Alpers DH, Kaplowitz N, et

al, editors Textbook of gastroenterology Vol 2 4th ed Philadelphia: Lippincott Williams & Wilkins; 2003 p 1883–913.

CHAPTER 96

The most common presenting symptoms are nal pain, blood per rectum, anemia, constipation, diarrhea,

abdomi-or change in stool character In contrast to rectal cancer,colon cancer rarely presents with anal pain, tenesmus, orincontinence The location of the tumor within the colonoften dictates the type of symptoms experienced Right-sided tumors tend to present with anemia or the consti-tutional symptoms produced by such Obstruction fromright-sided tumors are more commonly in the region ofthe ileocecal valve Left-sided tumors are more likely to pre-sent with obstruction, largely due to the narrow bowel cal-iber, circumferential lesions, and firmer stool consistency.Evident blood in the stool and a change in stool caliber arealso more commonly seen with distal colon cancer

DiagnosisOnce cancer is suspected through either screening or symp-toms, it is imperative that a thorough evaluation be per-formed A complete history and physical examination isnecessary to assess comorbid conditions prior to treatment

A detailed family history is important to determine thepossibility of a familial or hereditary syndrome Physicalexamination is most often unremarkable but can helpdetermine the presence of advanced disease through find-ings such as hepatomegaly, adenopathy, or an abdominalmass A complete colonoscopy should be performed, ifpossible, prior to definitive therapy to confirm the histo-logic diagnosis and to rule out synchronous polyps or can-cers In addition, colonoscopic tattooing of the index lesion

is important when the tumor is small or has been scopically excised to facilitate localization of these lesions

endo-at the time of operendo-ation

In addition to routine laboratory blood studies, a operative serum carcinoembryonic antigen (CEA) mea-surement is useful in both prognosis and postoperativesurveillance An elevated preoperative CEA is more likelyassociated with advanced disease and is an independentpredictor of poor outcome (Duffy et al, 2003) Although

pre-a preoperpre-ative CEA level is pre-advocpre-ated pre-as pre-a guide to operative management, it is important to realize that a nor-mal preoperative CEA should not influence the utility ofCEA for postoperative surveillance Patients with normal

post-Colorectal cancer (CRC) is the fourth most common

malig-nancy in the United States with 147,500 new cases in 2003,

ranking behind lung, breast, and prostate cancer With

57,100 deaths, it is the second to lung cancer as the leading

cause of cancer related deaths (Jemal et al, 2003) Large bowel

cancer can be further divided by the anatomic location of

the tumor into colon and rectal cancer Colon cancers are

those that arise within the portion of the large bowel that is

within the peritoneal cavity, from the cecum to the peritoneal

reflection where the large bowel becomes the rectum The

distinction from rectal cancer, although seemingly

some-what arbitrary, is important to make for several reasons,

including the clinical presentation, the operative

manage-ment, and the type of adjuvant therapy offered Of all large

bowel cancer, the colonic site makes up approximately 70%

Like rectal cancer, colon cancer management requires a

mul-tidisciplinary team approach in order to optimize detection,

treatment and subsequent surveillance There is a separate

chapter on rectal cancer (see Chapter 98, “Rectal Cancer”)

PresentationScreening for CRC before it becomes clinically apparent

has been shown to reduce cancer related mortality The

success of screening programs is one of the reasons cited

for the decline in mortality rates from CRCs over the past

20 years Screening is generally recommended to begin at

the age of 50 years, unless risk factors including family

his-tory are present Recommended screening options include

colonoscopy every 5 to 10 years, flexible sigmoidoscopy

every 5 years, and/or annual fecal occult blood testing

(FOBT) Despite these recommendations, only about

one-third of Americans have routine fecal occult blood testing

and even fewer comply with endoscopic screening (Quinn,

2003) With increased patient and physician awareness,

however, screening compliance for CRC has been on the

rise in recent years Yet even today, the majority of patients

with colon cancer come to medical attention through

symptomatic presentation rather than from screening

(Smith et al, 2001) There is a separate chapter on colon

cancer screening (see Chapter 93, “Colorectal Polyp and

Cancer Screening”) and another on genetic counseling (see

Chapter 94, “Colonic Neoplasia: Genetic Counseling”)