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FIG. 4 Anorectal manometry. (A) Normal manometry. Green = 20 mm Hg
pressure. (B) Dyssynergic defecation. Red = 100 mm Hg pressure. (From
Rao SS, Meduri K. What is necessary to diagnose constipation? Best Pract Res
Clin Gastroenterol. 2011;25[1]:127–140.)
Rectal Pressure
Anal Pressure
Resting State
Rectal Pressure
Anal Pressure
Resting State
Bearing Down
Phase
Bearing Down
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State
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Resting State
using a minimally invasive approach (laparoscopic or robotic) with
good outcomes and low morbidity. The approach will depend on the
surgeon’s preference and patients’ preexisting conditions (e.g., prior
abdominal surgeries). Anastomotic leak has been reported between
1% to 11%, bowel obstruction up to 33%, and postoperative ileus up
to 24%. Special attention must be paid to proper orientation of the
small bowel to avoid torsion of the mesentery, which could carry
devastating consequences. Evaluation of the anal sphincter is imperative, including ARM testing when physical exam triggers concern
such as low sphincter tone or poor squeeze effort. The rationale
behind this is the incidence of diarrhea and fecal incontinence after
this type of surgical procedure, which can be as high as 46% and
47%, respectively.
In some patients with colonic slow-transit constipation, ARM
testing may identify an additional component of pelvic floor dysfunction. This group should be treated with biofeedback before
subtotal colectomy (TAC-IRA), because higher rates of recurrent
constipation are common. Similarly, if rectal intussusception or
a rectocele/enterocele is identified on defecography, repair of the
outlet obstruction may be necessary before or at the same time of
TAC-IRA. Details about surgical repair of rectoceles are described
in the outlet obstruction constipation section.
Total Abdominal Colectomy with Ileorectal Anastomosis
The approach (open, laparoscopic, or robotic) will depend on the
patient’s preexisting conditions, abdominal surgical history, and
surgeon’s preference and expertise. The authors prefer and recommend a minimally invasive approach whenever feasible due to the
benefits of less postoperative pain, fewer wound infections (particularly in obese patients), and faster bowel recovery. A detailed
description of the laparoscopic technique will be discussed in the
following sections.
Preoperative.
A mechanical bowel preparation with polyethylene glycol or sodium phosphate in addition to a Nichols and Condon prep is used preoperatively. Patients should undergo education
and marking of potential stoma sites in case it is necessary, as well
as become enrolled in the enhanced recovery after surgery (ERAS)
protocol per each institution.
Intraoperative.
The procedure is performed under general
anesthesia, and patients should be placed on an antislip pad and
well secured to the operating table to eliminate unwanted sliding
during intraoperative changes in position, while also protecting
the skin and nerves at pressure points. A modified lithotomy
position with the legs slightly abducted and arms tucked to the
sides provides access to the anorectal area. Sequential compression
devices (SCD) should be placed on both legs unless otherwise
contraindicated before anesthetic induction. Surgical prophylactic
antibiotics should be administered within one hour of the skin
incision to reduce surgical site infections. Antibiotic selection
will vary based on institutional resistance patterns and availability, as well as the patient’s allergies. The authors prefer ceftriaxone and metronidazole in the absence of contraindications. All
patients should undergo a venous thromboembolism (VTE) risk
assessment perioperatively and be managed accordingly. A Foley
catheter should be inserted under sterile conditions and the rectum irrigated with a mixture of Betadine and warm sterile water
solution. An orogastric tube should be inserted to decompress
the stomach but removed postoperatively. Pneumoperitoneum
can be established using a Veress needle or a Hasson’s technique
depending on the patient’s body habitus and prior surgeries, as
well as the surgeon’s preference. Traditionally, a 12-mm trocar is
placed in the umbilical region to introduce a 10-mm 30-degree
laparoscope. An abdominal pressure of 15 mm Hg is achieved, and
upon entering the abdominal cavity, visceral injuries caused by
the entry instrument should be ruled out. Initially, four additional
ports are placed under direct laparoscopic vision: we use 5-mm
ports, one on each flank, one in the suprapubic position, and one
in the subxiphoid region. Eventually, one of the 5-mm ports will
be replaced by a 12-mm trocar to introduce the laparoscopic linear
stapler. Depending on the body habitus of the patient, a 12-mm
trocar can be placed in the right lower quadrant at the beginning
of the surgery. When using a hand-assisted technique, a Gelport
(Applied Medical; Rancho Santa Margarita, CA) is placed in the
lower abdomen through a Pfannenstiel incision. Figure 6 shows a
suggested port placement for laparoscopic cases. Dissection of the
colon can be performed using different approaches (top-down,
bottom-up, medial to lateral, or lateral to medial). The authors
prefer the medial to lateral approach, therefore this will be the
technique described next.
Colonic mobilization can be initiated on the left or right side
instinctively, keeping in mind that leaving the dissection of the
flexures for later facilitates self-retraction of the colon, otherwise
it will be floppy, compromising the exposure. Depending on which
side of the colon is being mobilized, adjustment of the patient’s
position will improve exposure. Retraction of the omentum
240 SURGICAL MANAGEMENTOF CONSTIPATION
estinal
Persistent ODS
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Constipation Patient
• History & physical examination
• Colonoscopy
• Lower gastrointestinal pathology
• Cross sectional imaging
• History & physical examination
• Colonic transit study
• Pelvic floor testing
Slow transit constipation
• Cathartics
• Pro-motility agents
Colectomy
Overt pelvic organ prolapse
Intrinsic
gastroint
pathology
Functional Constipation
Normal transit constipation
• Cathartics
• Pro-motility agents
Obstructed defecation
Occult prolapse/no prolapse
Prolapse repair
FIG. 5 Algorithm of the management of constipation. (From McNevin MS. Obstructed Defecation. In Steele S, etal. The ASCRS Textbook of Colon and Rectal
Surgery. Springer; 2016.)
and transverse colon into a cephalad position over the liver and
stomach is one of the first steps in either right or left colectomies.
Ligation of named vessels does not need to be at their origin, but
rather an intramesenteric dissection is acceptable. Energy devices,
clips, and staplers are some of the available options to ligate vessels depending on the anatomy and diameter of the vessel and
surgeons’ preferences. During right colectomies, dissection and
identification of the ileocolic vessels is a main step, in addition to
identification and preservation of critical structures such as the
the transverse colectomy, because all the tension will fall on the
middle colic vessels. Therefore, the surgeon would decide which
flexure to dissect first, then proceed to transect the middle colic
vessels, and lastly take down the other flexure. The middle colic
vessels are short, hence meticulous dissection is pivotal. Another
approach is to dissect the right side of the colon and continue the
dissection through the transverse colectomy followed by the left
colectomy. The best approach is usually the one the surgeon is
most comfortable with.
duodenum and right ureter. During left colectomies, identification
of the inferior mesenteric artery (IMA) is aided by palpation of
the promontory either by hand during hand-assisted procedures
or using a grasper during straight laparoscopy. The inferior mesenteric vein (IMV) is identified lateral to the duodenum at the
ligament of Treitz, caudal to the inferior border of the pancreas.
Its ligation usually facilitates the identification of the plane of
dissection between the left mesocolon and the retroperitoneal
structures. Careful manipulation of the IMV is crucial, as an inadvertent tear or avulsion can result in retraction of the proximal end
underneath the pancreas, producing significant bleeding that can
be hard to control. Mobilization of the flexures requires preservation of the spleen and tail of the pancreas on the left side and gallbladder, duodenum, and portal pedicle on the right. It is important
to avoid dissection of both flexures before proceeding to perform
stapler at the level of the terminal ileum proximally and at the
conversion of the taenia at the rectosigmoid junction. The speci-
men is removed through a small Pfannenstiel incision in straight
laparoscopy or by opening the Gelport (Applied Medical; Rancho
Santa Margarita, CA) during hand-assisted cases. The ileorectal
anastomosis is then created and either handsewn or stapled side to
side, end to end, side to end, or end to side (Fig. 7). At the same
time, stapled anastomosis can be performed using circular or
linear surgical staplers. Lastly, after reestablishment of the pneu-
moperitoneum, a leak test must be performed using warm saline
irrigation of the pelvis and a flexible sigmoidoscope. The anasto-
mosis should satisfy the principles of being free of tension, well
vascularized, and with a confirmed negative leak test. In patients
in whom an IRA anastomosis is not possible or wanted (e.g., poor
• Dietary modification
• Behavior modification
• Biofeedback
Division of the bowel is performed with a laparoscopic linear
5 mm
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12 mm
5 mm
12 mm
5 mm
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5 or 12 mm
Gelport
FIG. 6 Laparoscopic port placement.
FIG. 7 Variations of ileorectal anastomosis. (A) End-to-end (EE) anastomosis with a double-stapled anastomosis. (B) EE anastomosis with a double purse-
string anastomosis. (C) Side-to-end anastomosis. (D) Side-to-side anastomosis with the small bowel on the right side. (E) Side-to-side anastomosis with the
small bowel on the left side. (From Jolly S, Dudi-Venkata NN, Hanna-Rivero N, etal. Four different ileorectal anastomotic configurations following total colectomy. ANZ J
Surg. 2020;90[9]:1588–1591.)
sphincter function with fecal incontinence), an alternative is the
creation of an end ileostomy.
Robotic port placement will depend on the robotic platform
used. However, the technical aspects of the surgery are essentially
the same.
Cecorectal Anastomosis
Alternatively, other surgical options are a side-to-side cecorectal
anastomosis and antiperistaltic cecorectal anastomosis with subtotal
colectomy. The benefit of a subtotal total colectomy with cecorectal
anastomosis (Jinling procedure) is the resolution of the obstructive
defecation symptoms with less likelihood of consequence diarrhea
due to preservation of the ileocecal valve (Fig. 8).
Completion Proctectomy with Ileal Pouch–Anal
Anastomosis (IPAA)
Completion proctectomy with ileal pouch–anal anastomosis (IPAA)
is typically not recommended as first-line treatment but instead is
reserved for patients who have failed all other available options.
Usually, IPAA is offered before committing to a permanent stoma.
Most patients undergoing IPAA have undergone an abdominal
TAC-IRA and present recurrent symptoms of constipation. Pouch
242 SURGICAL MANAGEMENTOF CONSTIPATION
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FIG. 8 Types of reconstructive surgery after subtotal colectomy with ileocecal junction preservation. (A) Isoperistaltic ascendo- or cecorectal anastomosis,
proposed by Lillehei and Wangensteen. (B) Counterclockwise rotation of the cecum and ascending colon (Deloyers procedure). (C) Ascendo- or cecorectal anastomosis, side-to-end. (D, E) Cecorectal anastomosis. (From Efetov SK, Zubayraeva AA, Nekoval VM, et al. Extended colectomy followed by cecorectal anasto-
mosis as a surgical treatment modality in synchronous colorectal cancer. Case Rep Oncol. 2020;13(2):813–821.)
excision and poor functional outcomes are some of the complications associated with an IPAA; therefore, the authors recommend a
full workup (including ruling out Hirschsprung’s disease) and comprehensive discussion and counseling of possible risks and benefits
with the patient before committing to the procedure. Careful patient
selection is key.
Diverting Ileostomy
Creation of a stoma is usually reserved as a last resort in patients in
whom all other alternatives have failed (up to 25% of cases), those
with associated fecal incontinence, or those deemed poor surgical
candidates unfit to undergo major surgery. The type of stoma will
depend on the etiology of the constipation. A diverting loop ileostomy is preferred for patients suffering from colonic slow-transit
constipation. It allows symptomatic relief while offering information
about the function of the upper gastrointestinal tract. This can be
extremely helpful in cases such as global gastrointestinal dysmotility
disorders.
Outlet Obstruction Constipation.
Obstructed defecation is
generally a complex problem due to the presence of concurrent
conditions that may engender frustration in patients and treating
physicians. This occurs because of slow treatment response, poor
resolution of debilitating symptoms, and consequent negative
impact on the quality of life. The primary treatment of obstructive
defecation constipation is nonoperative. However, in cases of rectal
intussusception or large rectoceles refractory to nonoperative management, surgery may be considered. Although it may resolve associated anatomic problems (e.g., rectal ulcers), it may not improve
or, in some cases, may potentially worsen functional outcomes.
Rectocele Repair
Rectoceles are the result of an abnormal rectovaginal fascia, typically
caused by obstetric trauma. Most symptomatic rectoceles are successfully managed with conservative treatment such as an adequate
bowel regimen, changing toilet habits, and biofeedback therapy.
Conventionally, only large (>4 cm) symptomatic rectoceles or those in
which nonoperative treatments have failed are offered surgical repair.
Nonetheless, the decision should be individualized after a thorough
discussion with the patient, understanding the symptoms and setting
clear postoperative expectations. Transvaginal, transrectal, or transperineal approaches have shown similar outcomes. The selection will
be based on the surgeon’s experience and preference. The authors
prefer transvaginal repair since it is a rather simple technique that
allows better access to the endopelvic fascia and levator muscle, and
it is associated with fewer complications such as infection and fistula
formation because it does not violate the rectal mucosa. Transvaginal
repairs include the midline plication (traditional technique) and the
site-specific repair.
Preoperative.
A mechanical bowel preparation with polyethylene glycol or sodium phosphate in addition to a Nichols and
Condon prep is used preoperatively in case the rectal wall is injured
inadvertently during the dissection.
Intraoperative.
The procedure can be performed under spinal or general anesthesia; the authors prefer the latter. Patients are
placed in a modified lithotomy position. The rectum should be
irrigated, and extra gloves should be available on the instrument
table in anticipation of digital rectal examinations during the
procedure. SCD should be placed on both legs unless otherwise
FIG. 9 Posterior vaginal repair of rectocele. (From Joint Report on
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Terminology for Surgical Procedures to Treat Pelvic Organ Prolapse [published correction appears in Female Pelvic Med Reconstr Surg. 2020;26(6):407]. Female
Pelvic Med Reconstr Surg. 2020;26[3]:173–201.)
contraindicated before anesthetic induction. Surgical prophylactic
antibiotics should be administered within one hour of the skin
incision to reduce surgical site infections. Antibiotics selection
will depend on each institution, as well as the patient’s allergies.
The authors prefer ceftriaxone and metronidazole in the absence
of contraindications. All patients should undergo a VTE risk
assessment perioperatively and be managed accordingly. A Foley
catheter should be inserted under sterile conditions and placed
over one of the legs. Using a marking pen, a longitudinal mark is
made over the longest axis of the rectocele in the center of the posterior vaginal wall. Then, a local anesthetic with dilute epinephrine
(lidocaine 1% with 1:200,000 units of epinephrine) is injected to
aid with hemostasis. With the use of a 15-blade scalpel, a midline
incision is made over the vaginal mucosa, which is deepened using
electrocautery, and the fibromuscular layer of the vagina is dissected. Upon creation of vaginal wall flaps on each side, clamps are
placed to facilitate gentle traction. In cases of associated enteroceles, the sac should be opened, the content reduced, and then the
sac is closed with a purse-string, delayed-absorbable suture. Once
the dissection reaches the extent of the rectocele on both sides and
the rectal wall has been examined and confirmed intact, the surgeon proceeds to plicate the vaginal muscularis and rectovaginal
tissues in the midline using 2-0 or 0 absorbable or delayed-absorbable interrupted sutures. In the event of a rectal wall injury, it
should be immediately repaired using delayed-absorbable suture.
If deemed necessary by digital rectal examination, the levator
muscles are plicated in the midline, avoiding overcorrection.
Lastly, after verifying hemostasis, the redundant vaginal mucosal
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edges are trimmed on both sides and reapproximated using a 2-0
absorbable suture. A vaginal packing is placed and removed 24
hours postoperatively.
Patients can be placed in 24-hour observation and should be
offered laxatives to avoid straining. Figure 9 shows a transvaginal
rectocele repair.
There is supporting data on the use of reinforcement of rectocele
repairs using synthetic or biological mesh products, particularly for
rectocele repairs performed with a transvaginal or transperineal
approach. Similar postoperative results have been described.
Transrectal stapled repair of rectoceles and rectal intussusception lost popularity over the years due to the high rate of
complications.
Reporting of short-term results shows improvement of constipation symptoms in greater than 80% of patients, with low complication and recurrence rates.
Colostomy Creation
In patients with outlet obstruction constipation who are not compliant or have failed nonoperative therapy, or those who are not
candidates for other available treatment options, a colostomy can be
considered. If workup reveals a normal colonic transit, a descending
colostomy is generally a good alternative with much less morbidity
than ileostomies.
243
Other Surgical Options
Colonic Disimpaction
Not all patients tolerate bedside enemas or disimpaction, in
which cases disimpaction under anesthesia may be necessary.
These are relatively simple procedures that commonly require
only sedation and irrigation. It also allows an opportunity to
perform endoscopic procedures and biopsies when deemed
necessary.
Malone Antegrade Colonic Enema
Originally described to treat fecal incontinence in children, the
antegrade colonic enema uses an appendicostomy or cecostomy
to manage constipation symptoms in carefully selected and highly
motivated patients who are not interested in or are not candidates
for colectomy. Although this technique has been abandoned by
many surgeons due to the high rates of malfunction due to stenosis
(almost 100%) or leakage, it continues to be an alternative treatment
option.
Sacral Nerve Stimulation
This therapy is not currently approved by the Food and Drug
Administration (FDA) for the management of constipation;
however, it is widely used in the treatment of urinary and fecal
incontinence. However, sacral neuromodulation (SNM) or acral
nerve stimulation (SNS) has been used for the treatment of
slow-transit or outlet obstruction constipation outside of the
United States. Success rates are widely variable, ranging between
42% and 100%.
ADULT HIRSCHSPRUNG’S DISEASE
poor or no response to treatment, Hirschsprung’s disease should
be suspected and ruled out. A disease known to be caused by the
congenital absence of submucosal and myenteric ganglion cells, it
is confirmed by biopsy of the affected bowel segment. Frequently
unrecognized among the adult population because it is considered a
children’s disease, an absent rectoanal inhibitory reflex during ARM
is pathognomonic. It can be surgically managed with the following
procedures: Duhamel’s, Swenson’s, myectomy, Soave’s, and low
244 SURGICAL MANAGEMENT OFTHE POLYPOSIS SYNDROMES
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anterior resection. There is a paucity of data comparing success rates
between these techniques in adults.
CONCLUSION
Constipation is a chronic disease with a significant impact on
the quality of life of those who suffer from it. Most cases respond
successfully to conservative management. However, those who are
refractory to medical treatment may benefit from surgical procedures. Individualized workup and treatment are key to achieving
resolution of symptoms and improving quality of life.
S u g g e S t e d R e a d i n g S
Bharucha AE, Lacy BE. Mechanisms, Evaluation, and Management of
Chronic Constipation. Gastroenterology. 2020;158(5):1232–1249.
Bordeianou LG, et al. Consensus Statement of Definitions for Anorectal
Physiology Testing and Pelvic Floor Terminology (Revised). Diseases of
the Colon & Rectum. 2018;61(4):421–427.
Ding W, Jiang J, Feng X, etal. Novel surgery for refractory mixed constipa-
tion: Jinling procedure - technical notes and early outcome. Arch Med Sci.
2014;10(6):1129–1134.
Drossman DA. The functional gastrointestinal disorders and the Rome III
process. Gastroenterology. 2006;130(5):1377–1390.
Joint Report on Terminology for Surgical Procedures to Treat Pelvic Organ
Prolapse [published correction appears in Female Pelvic Med Reconstr
Surg. 2020;26(6):407]. Female Pelvic Med Reconstr Surg. 2020;26(3):173–
201.
Jolly S, Dudi-Venkata NN, Hanna-Rivero N, Kroon HM, Reid FSW, Sammour
T. Four different ileorectal anastomotic configurations following total colec tomy. ANZ J Surg. 2020;90(9):1588–1591.
Kapadia M, Varma M, Evaluation of Constipation and Treatment of
Abdominal Constipation. In: Steele S et al, ed. The ASCRS Textbook of
Colon and Rectal Surgery: Springer; 2016.
Lacy BE, Mearin F, Chang L, et al. Bowel disorders. Gastroenterology.
2016;150(6):1393–1407.
Lewis SJ, Heaton KW. Stool Form Scale as a Useful Guide to Intestinal Transit
Time. Scand J Gastroenterol. 1997;32(9):920–924.
Paquette IM, Varma M, Ternent C, et al. The American Society of Colon
and Rectal Surgeons’ Clinical Practice Guideline for the Evaluation and
Management of Constipation. Dis Colon Rectum. 2016;59(6):479–492.
Unger CA, Paraiso MFR, etal. Middle and Anterior Compartment: Issues for
the Colorectal Surgeon. In: Steele S et al, ed. The ASCRS Textbook of Colon
and Rectal Surgery: Springer; 2016.
Surgical Management
ofthe Polyposis
Syndromes
Scott R. Kelley, MD, and Sacha P. Broccard, MD
INTRODUCTION
Colorectal polyps can be classified as adenomatous, hamartomatous, hyperplastic, neoplastic, and inflammatory. The development
of multiple polyps is considered a polyposis syndrome, and several
have been described. Each syndrome has different characteristics
including presentation, genetic basis, extracolonic manifestations,
and malignancy risk (Table 1). Management options include strict
surveillance for the early detection of cancer, chemopreventive
medications, and surgery. A detailed family history and genetic evaluation are imperative, and siblings and offspring should be offered
genetic counseling and testing. Multidisciplinary care (clinical
services, support, counseling) and referral to a polyposis registry is
recommended. This chapter focuses on the most common polyposis
syndromes.
ADENOMATOUS POLYPOSIS
SYNDROMES
Familial Adenomatous Polyposis
inherited disease resulting from a mutation in the adenomatous
polyposis coli (APC) tumor suppressor gene located on chromosome 5q21. Most mutations are found between codons 168 and
1640, with two of the most significant being 1061 and 1309. FAP
is defined as greater than 100 synchronous adenomas or fewer
than 100 with a positive family history. Polyps, predominately
found in the rectum and left colon, develop in adolescence and
are present in up to 15% of patients by 10 years of age and 75% by
20. If untreated, the risk of colorectal malignancy is nearly 100%
by 35 to 40 years of age. Approximately 25% to 30% do not have a
family history and will develop FAP de novo. The most common
presenting symptoms are bleeding, diarrhea, abdominal pain, and
mucous discharge.
For those with a family history or identified APC mutation, a
screening colonoscopy should be performed at 10 to 12 years of age
and continue annually. With the predilection for polyp development
in the left colon and rectum, a yearly flexible proctosigmoidoscopy
can be completed instead of a formal colonoscopy. If adenomatous
polyps are appreciated on sigmoidoscopy, a formal colonoscopy
should ensue.
Extracolonic Intestinal Disease
Extracolonic intestinal disease is a common manifestation of
FAP. Hyperplastic gastric fundic glad polyps (FGPs), which have
low malignant potential, will develop in 30% to 90% of patients.
They affect women and men equally and commonly present in
the third or fourth decade of life. In contrast to FGPs, gastric
adenomas have the potential for malignant progression, are rare
(10%–30%), and typically occur in the antrum. They are more
commonly associated with the Japanese and Korean population
where the risk of gastric cancer is three to four times higher than
western FAP patients.
Duodenal adenomas, most commonly found around the ampulla
of Vater and macroscopically different than colonic adenomas, are
found in more than 95% of patients with FAP and develop approximately 15 years later than colonic polyps. Duodenal cancer, typically
diagnosed around 50 years of age, occurs in 5% to 10% and is the
second leading cause of death associated with FAP. A screening
esophagogastroduodenoscopy (EGD) is typically performed around
20 years of age, and the Spigelman severity score and staging system
(Table 2) is used to determine surveillance intervals (Table 3). The
risk of developing cancer after 10 years of follow-up for stage I is
0, stage II and III 2%, and 36% for stage IV. Small tubular adenomas, as well as those with low-grade dysplasia, can be biopsied and
observed. High-risk adenomas (villous, >1 cm), severe duodenal
TABLE 1 Summary of Colorectal Polyposis Syndromes
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245
Inheritance
Syndrome Gene
Pattern Clinical Presentation
FAP APC AD Left colon and rectum
>100 adenomas
Duodenal adenomas (95%)
Fundic gland hyperplasia (90%)
Gastric adenomas (10%)
Extraintestinal
Manifestations
Benign osteomas (80%)
CHRPE (75%)
Epidermoid cysts (50%)
Dermoid tumors (30%)
Supernumerary teeth
CRC
Risk (%)
100
Cerebellar medulloblastoma
aFAP APC AD Right colon
<100 adenomas
MUTYH MYH AR Left colon
10s to 100s of adenomas
Peutz-Jeghers LKB1 (STK11) AD Entire GI tract
Hamartomatous polyps
Juvenile
Polyposis
SMAD4
BMPR1A
AD Entire GI tract
Hamartomatous polyps
Fundic gland hyperplasia
Duodenal adenomas
Fundic gland hyperplasia
Duodenal adenomas
Mucocutaneous
pigmentation
Cleft lip/palate
Polydactyly
100
80
30-40
40
Hydrocephalus
GU anomalies
Congenital heart disease
AVMs
Hemorrhagic telangiectasias
Cowden’s PTEN AD Colon and stomach
Combination of hamartomas, fibromas,
adenomas, lipomas, neurofibromas
Bannayan-Riley-
Ruvalcaba
PTEN AD Entire GI tract
Combination of hamartomas and lipomas
Trichilemmomas
Macrocephaly
Hamartomas
Pigmented penile macules
Macrocephaly
NG
NG
Hamartomas
Hemangiomas
Mental retardation
Cronkhite-
Canada
Hereditary
Mixed
Polyposis
Serrated
Polyposis
PTEN Sporadic Entire GI tract
Hamartomatous polyps
Diffuse GI inflammation resulting in
malabsorption, diarrhea, protein-losing
enteropathy
Unknown Unknown Colon and rectum
Combination of adenomatous, hamartoma-
tous, hyperplastic polyps
Unknown Unknown Colon and rectum
At least 5 serrated polyps, all greater than 5
Alopecia
Hypogeusia
Macrocephaly
Onycholysis
Cutaneous pigmentation
None NG
None 30-50
NG
mm in size and proximal to the rectum,
2 of which are greater than 10 mm in
diameter
-ORMore than 20 serrated polyps of any size
distributed throughout the large intestine
with 5 being proximal to the rectum
AD, Autosomal dominant; AR, autosomal recessive; AVMs, arteriovenous malformations; CHRPE, congenital hypertrophy of the retinal pigment epithelium;
CRC, colorectal cancer; aFAP, attenuated FAP; FAP, familial adenomatous polyposis; GI, gastrointestinal; GU, genitourinary; MUTYH, mutation-Y-homologue
associated polyposis; NG, no greater than general population.
polyposis, high-grade dysplasia, or stage IV disease should be offered
a pancreas-preserving duodenectomy, and those with cancer a
pancreaticoduodenectomy. Chemoprevention with nonsteroidal
antiinflammatory agents (sulindac, celecoxib) can result in polyp
regression in those with a lesser polyp burden, though overall the
effect is minimal at best.
Extraintestinal Manifestations
Common extraintestinal manifestations of FAP include osteomas, congenital hypertrophy of the retinal pigmented epithelium
(CHRPE), epidermoid cyst, and dermoids. Benign osteomas of the
mandible, skull, and tibia are the most common extraintestinal
finding occurring in upward of 80% of patients. Although CHRPE
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TABLE 2 Spigelman Staging System* for Upper
Gastrointestinal Manifestations of Familial
Adenomatous Polyposis
Points 1 2 3
Number of polyps 1–4 5–20 >20
Size of polyps (mm) 1–4 5–10 >10
Histology Tu bular Tubulovillous Villous
Dysplasia Mild Moderate Severe
*Spigelman stage I, score 1–4; stage II, score 5–6; stage III, score 7–8; stage
IV, score 9–12.
TABLE 3 Derivation of Spigelman Stage from Scores
Suggested Interval to Next
Total Points Spigelman Stage
0 0 5
1–4 I 3–5
5–6 II 3
7–8 III 1
9–12 IV Duodenectomy; if not,
is not specific to FAP, four or more areas of large patchy fundic discoloration is pathognomonic and will be present in around 75% of
individuals. Epidermoid cysts occur approximately 50% of the time.
Other extraintestinal manifestations, though rare, include supernumerary teeth, cerebellar medulloblastoma, and cancers of the liver,
biliary tree, adrenal glands, and thyroid.
Duodenoscopy (Years)
rescope in 6 months
Desmoid Tumors
Desmoids develop in 15% to 30% of patients and are locally invasive
abdominal wall and intraabdominal/retroperitoneal myofibroblastic
tumors that typically develop 2 to 3 years after surgery and occur
around 30 years of age. They can develop spontaneously, are the third
most common cause of death associated with FAP, and have been
noted to be associated with trauma. Risk factors associated with the
development of desmoids are mutations in the 3΄ end of the APC
gene, female gender, extraintestinal manifestations, and a family history of desmoid disease. Ten percent of desmoids grow rapidly, 10%
resolve spontaneously, 30% vacillate between cycles of growth and
regression, and 50% remain stable or grow very slowly.
Extraabdominal desmoids are best treated with surgical extirpation with a 1-cm margin, though recurrence is high with documented rates of 20% to 50%. Early excision is recommended to
decrease the size of the resultant abdominal wall defect.
Intraabdominal/retroperitoneal desmoids can invade the mesentery
and surrounding structures resulting in obstruction, hemorrhage,
fistulization, ischemia, and perforation. The primary treatment is
medical and includes nonsteroidal antiinflammatory agents (sulindac,
celecoxib), estrogen antagonists (tamoxifen, toremifene, raloxifene), and
chemotherapy (vinblastine, methotrexate, doxorubicin, Adriamycin,
dacarbazine). Radiotherapy can be used for palliative measures but is
associated with small bowel necrosis and fistulas. Surgical removal is
difficult and often impossible if the root of the mesentery is involved.
Resection with completely uninvolved margins (R0) will result in
recurrence 50% of the time. FAP-associated desmoid tumors are
more likely to recur than their sporadic or pregnancy-associated
counterparts. If possible, nonresective procedures such as diversion
and bypass can be pursued for palliation. Ureteral obstruction is best
treated with stenting.
There is not a defined screening regimen for desmoid tumors,
although computed tomography (CT) and magnetic resonance imaging (MRI) can be utilized, especially for those with an increased risk
of developing desmoids.
Attenuated Familial Adenomatous Polyposis
In contrast to classic FAP, attenuated FAP (aFAP) presents at a later
age (30s–40s) with fewer than 100 polyps predominantly found in
the right colon. If untreated, the risk of colorectal malignancy is
nearly 100% by 59 years of age. Extracolonic and intestinal manifestations including gastric adenomas, desmoids, and CHRPE are
typically not seen in aFAP. Gastrointestinal (GI) malignancy from
duodenal polyps has been described in patients with aFAP.
For those with a family history or identified APC mutation suggestive of aFAP, screening colonoscopy should begin between 18 to
20 years of age and repeated every 1 to 2 years. With the predilection
for polyp development in the right colon, a formal colonoscopy is
recommended. Screening EGD should begin between the ages of 20 to
25, or before colectomy, with repeat interval based on Spigelman stage.
Mutation Y-Homolog Associated Polyposis
Mutation Y-homolog (MYH)-associated polyposis (MAP) is an
autosomal recessive inherited form of FAP resulting from a biallelic
mutation in the MYH gene located on chromosome 1p34. The number of polyps associated with MAP is variable (tens to hundreds)
with a median around 50. Polyps are most commonly found in the
left colon and present at a median age of 48. If untreated, the risk of
colorectal malignancy is around 80% by 70 years of age. Extraintestinal manifestations are associated with MAP, though exceedingly rare.
Due to the phenotypic overlap with FAP, genetic testing for the
MYH is typically performed when no APC mutation is detected,
there are fewer than 100 adenomatous polyps, and the family history
is irrelevant or does not reveal a dominant mode of inheritance.
Screening colonoscopy should begin between ages 18 to 20 and
repeated every 1 to 2 years. Screening EGD should begin between
ages 30 to 35, or before colectomy, with repeat interval based on
Spigelman stage.
CHEMOPREVENTION
Although clinical trials have shown that nonsteroidal antiinflammatory drugs (sulindac, exisulind, celecoxib) and aspirin can reduce
the size and number of adenomas in the colon and rectum, there
was not an appreciable reduction in cancer. Chemoprevention is not
recommended as a primary therapy for polyposis syndromes and
is not an appropriate alternative to prophylactic surgery. Situations
where chemoprevention can be entertained include treating ileal
pouch anal anastomosis (IPAA) polyps, a high family risk of desmoid
tumors, delayed surgery, and unwillingness or inability to tolerate
polypectomy or completion proctectomy.
SURGERY
The primary goal of surgery is to prevent colorectal cancer. The
timing and type of surgery offered depends on a multitude of factors
including clinical presentation, family history, and, if known, the site
of the chromosomal mutation. Severe polyposis (>1000 colonic or
20 rectal polyps) and APC mutations between codons 1250–1464
carry a higher risk of cancer, and surgery should be offered as early
as possible. Surgery should also be pursued early for symptomatic
disease. For those with a high risk of desmoid disease (family history,
mutation in the 3΄ end of the APC gene, female gender, extracolonic
manifestations), surgery should be delayed as long as possible to
decrease the chance of desmoid tumors developing. Young patients
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should have surgery delayed, if possible, to allow for adequate physical, social, and intellectual maturity. For patients with classic FAP,
surgery should be pursued well before cancer develops and typically
occurs around 16 to 20 years of age.
Surgical options include an open or minimally invasive total
proctocolectomy (TPC) with creation of an end or continent ileostomy, total abdominal colectomy (TAC) with creation of an ileorectal
anastomosis (IRA), and a TPC with creation of an IPAA.
Proctocolectomy with End Ileostomy
A proctocolectomy with end Brooke ileostomy has a low rate of
complications but leaves the patient with an incontinent stoma.
Indications for this approach are patient preference, low rectal cancer
requiring an abdominoperineal resection, rectal cancer requiring
postoperative pelvic radiation, inability to create an IPAA (inadequate mesenteric length), and poor sphincter function.
The procedure is carried out in an oncologic approach secondary
to the risk of a preoperatively unrecognized cancer. A perineal intersphincteric dissection is carried out preserving the external sphincter
and levator ani muscles. The perineum is closed in layers, and the
greater omentum, if present, is mobilized and placed in the pelvis to
prevent future bowel obstructions. After closure of the abdomen, the
ileostomy is matured in a standard evaginated Brooke fashion, with
an attempted ideal projection of 2.5 cm.
Proctocolectomy with Continent Ileostomy
Initially described by Nils Kock in 1969, the continent ileostomy
still remains a viable alternative for motivated patients who are not
candidates for an IPAA. Modifications and revisions to the original
Kock continent ileostomy have been described (Barnett continent
ileostomy reservoir and T-pouch) though without evidence to suggest they are better than the Kock pouch. Contraindications to construction of a continent ileostomy include Crohn’s disease, obesity,
marginal small bowel length, and anyone with a psychological or
physical disability that would preclude understanding or being able
to perform daily stomal intubation.
Total Abdominal Colectomy with Ileorectal
Anastomosis
Colectomy with ileorectostomy should only be considered in cases of
attenuated or mild polyposis (<20 rectal, <1000 colonic adenomas),
rectal polyps less than 3 cm in size, no colorectal dysplasia or cancer,
a distensible and compliant rectum, and in patients with an intact
sphincter mechanism who are willing to adhere to strict follow-up.
Ileoproctostomy is an appealing alternative in younger patients of
reproductive age to decrease the risk of impotence and reduced
fecundity. Strict rectal surveillance (every 6–12 months) must be
adhered to due to the increased risk of future neoplastic changes. The
risk of rectal carcinoma can reach up to 40% by 30 years, though this
is based on literature from the pre-IPAA era. In patients who require
a completion proctectomy, an end ileostomy, restorative IPAA, or
continent ileostomy are all options.
of construction and excellent functional outcomes, has become the
most common choice for surgeons.
A total colectomy is performed in an oncologic fashion, and the
ileum is transected flush with the cecum (Fig. 1). To provide adequate perfusion to the pouch, it is imperative to preserve the ileal
branches of the ileocolic and distal mesenteric arteries. Evaluation
for adequacy of reach of the small bowel to the deep pelvis should
be undertaken before creation of the pouch. The proposed point of
the pouch-anal anastomosis can be pulled down to the pubis, and if
this point can be easily advanced 3 to 4 cm below the inferior edge of
the pubis, one can feel confident of successful reach for anastomosis.
Strategies to decrease tension at the anastomosis include complete
mobilization of the small bowel mesentery to the root of the superior
mesenteric artery cephalad to the head of the pancreas (Fig. 2), proximal division of the ileocolic artery (Fig. 3), and relaxing incisions
of the mesentery over tension points along the superior mesenteric
artery (Fig. 4). Rectal dissection is completed in the TME plane, and
transection of the rectum with a 30- to 40-mm transverse stapler
FIG. 1 Transection of ileum flush with cecum. (From Kelley SR, Dozois EJ.
Ulcerative colitis. In A Companion to Specialist Surgical Practice: Colorectal
Surgery. 5th ed. Edinburgh: Elsevier; 2014:129.)
Restorative Proctocolectomy/Ileal Pouch Anal
Anastomosis
Initially described in 1978 by Parks and Nicholls, the restorative
proctocolectomy has become the most common continence-preserving procedure performed in patients who are appropriate candidates.
Indications include severe polyposis (>20 rectal, >1000 colonic adenomas), rectal polyps larger than 3 cm in size, colonic dysplasia or
cancer, dysplastic rectal polyps, and patients with an intact sphincter
mechanism willing to adhere to strict follow-up. The restorative
pouch can be fashioned in two limbs (J), three limbs (S), four limbs
(W), or isoperistaltic (H) configurations. The J-pouch, due to its ease
FIG. 2 Mobilization of the small bowel mesentery to the root of the superior
mesenteric artery. (From Kelley SR, Dozois EJ. Ulcerative colitis. In A Companion to
Specialist Surgical Practice: Colorectal Surgery. 5th ed. Edinburgh: Elsevier; 2014:131.)
248 SURGICAL MANAGEMENT OFTHE POLYPOSIS SYNDROMES
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FIG. 3 Division of the ileocolic artery. (From Mayo Foundation for Medical
Education and Research.)
FIG. 4 Mesenteric relaxing incisions. (From Mayo Foundation for Medical
Education and Research.)
zone (ATZ) (Fig. 5). After reach has been verified, a J-configuration
is fashioned with each limb measuring between 12 to 15 cm in
length. The limbs are paired in an antimesenteric fashion and held in
orientation with interrupted stay sutures. For those without evidence
of adenomas in the ATZ or dysplasia in the lower rectum, a double-stapled IPAA can be fashioned, otherwise an anal mucosectomy
and handsewn IPAA is recommended. Following creation of the
IPAA, an air insufflation leak test is performed and, if necessary, a
protective loop ileostomy fashioned, which should be created as close
FIG. 5 Rectal transection. (From Kelley SR, Dozois EJ. Ulcerative Colitis. In
A Companion to Specialist Surgical Practice: Colorectal Surgery. 5th ed.
Edinburgh: Elsevier; 2014:132.)
to the pouch as possible to decrease issues with high output and in
the unlikely case that a redo-IPAA would need to be performed. In
selected patients, the operation can be completed with good results
without the creation of a diverting loop ileostomy.
Double-Stapled Technique
An enterotomy is made in the antimesenteric apex of the pouch, and a
linear cutting stapler is used to divide the walls of the two limbs creating
a common channel (Fig. 6). A purse-string suture is then fashioned
around the enterotomy, and the anvil from a circular stapler is placed
inside the pouch where it is held in place by tightening the purse string
(Fig. 7). The circular stapler is then placed transanally. After appropriate
orientation, the circular stapler cartridge spike is advanced either above
or below the transverse rectal staple line and attached to the anvil. The
stapler is then closed, approximating the pouch and anus (Fig. 8).
Handsewn Technique
An anal canal mucosectomy is performed starting at the dentate
line. Raising the mucosa with a submucosal injection (Fig. 9) of
dilute saline and epinephrine (1:200,000) facilitates dissection of the
mucosa away from the internal sphincter muscle (Fig. 10), which can
be completed sharply or with electrocautery. After the mucosa and
proximal rectum have been removed circumferentially, the pouch is
gently brought down to the level of the dentate line. An enterotomy
is made in the apex of the pouch, if not already created, and it is
anchored in position by placing a suture in each of the four quadrants
incorporating a full thickness bite of the pouch, internal sphincter
muscle, and mucosa. Sutures are placed between the anchoring
stitches to complete the anastomosis (Fig. 11).
Postoperative Surveillance
After the creation of an IPAA or IRA, lifelong interval lower
endoscopic surveillance is required for adenomas, dysplasia, and
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