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Archana Dalal*, Nargis Barsiwala**,Amarish Vaidya**, Sanjay Navani***, Subhash Dalal**
*Ex-Senior Resident in Surgery; **Consulting Paediatric Surgeons, The Bhatia General Hospital, Tardeo, Mumbai 400 007. ***Assistant Surgical Pathologist and Immunohistochemist, Breach Candy Hospital and Research Centre,
Mumbai -
400 026.

Familial adenomatous polyposis (FAP) is a relatively rare genetic disease (estimated gene frequency is 1/5000 - 1/10000) with an autosomal dominant mode of inheritance. It is characterized by the development of hundreds to thousands of colonic adenomatous polypi, usually occurring between 15 and 30 years of age. They may remain asymptomatic for a long time, but eventually either become so numerous as to cause symptoms of bleeding, pain, prolapse of rectum/polypi or carcinoma develops. If affacted individuals are untreated, they will nearly all develop colorectal cancer. We present a case of an 8-year old female child; who presented with history of bleeding P/R and rectal prolapse who was treated by total colectomy, rectal mucosectomy and endorectal ileal pull-through procedure. Relevant literature has also been discussed briefly.


An 8-year old female child presented with history of off and on bleeding P/R since 4 years. She was treated by local doctors for dysentery, but was never symptom free. Before 6 months she had rectal prolapse and was referred to us for further management of the same.

On physical examination, there was prolapse of the rectum (Fig. 1) with multiple, congested, oedematous polypi. One polyp was biopsied which turned out to be benign adenomatous polyp. After reducing the prolapse, colonoscopy was done which revealed multiple polypi all throughout; but more in rectum and caecum. Barium enema (Fig. 2) also revealed multiple polypi in rectum and colon upto caecum. Stomach and small intestine were normal on barium meal examination.

Operative Procedure

The child was placed in lithotomy position. Abdomen and perineum were painted and draped. The abdomen was explored and the total colectomy, from caecum to sigmoid colon was performed. The endorectal dissection and transabdominal mucosectomy were performed by incising circumferentially the muscularis of upper rectum and developing a plane between submucosa and muscularis propria. The dissection was carried out upto the dentate line distally. The mucosal-submucosal tube was everted and brought through the anus. The terminal ileum was then brought out through the anorectal sleeve and 6 inches of terminal ileum was kept projected outside through the anal verge. After 2 months (allowing the fibrosis to take place between the anorectal sleeve and distal ileum); the redundant ileum was excised flush to the anal verge.

The postoperative recovery of the patient was uneventful. She is fully continent since the early postoperative period.

Fig. 1
Fig. 1 : Rectal prolapse with multiple, congested, oedematous polypi.

Fig. 2
Fig. 2 : Barium enema plate showing multiple polypi from caecum to rectum.

On Gross Examination (Fig. 3)

The 45 cm long specimen consisted of appendix, caecum, ascending, transverse, descending and sigmoid colon. The mucosal surface was studded with several polypi ranging from slight elevations to larger sessile/pedunculated polypi measuring 3 cm; some of which showed surface haemorrhage. Areas of fixation and ulceration were absent. The pericolic fat yielded 35 lymph nodes, the largest measuring 1 cm in diameter. The appendix was grossly normal.

Fig. 3
Fig. 3 : Cut open specimen of total colectomy showing multiple polypi.

On Microscopic Examination (Fig. 4)

Several polypi were sampled and showed a similar histologic appearance. All showed an oedematous proliferation in a fibrovascular stroma. The epithelium showed a variably stratified columnar epithelium with fairly uniform, normochromatic nuclei. Atypia was not identified. The fibroblastic stroma showed a variable chronic inflammatory infiltrate. All lymph nodes showed nonspecific lymphadenitis. The appendix showed changes of chronic appendicitis.


FAP is an autosomal dominant disease caused by the germline mutations of the adenomatous polyposis coli gene, which is located on the long arm of chromosome 5 in band q21.[1] If remained untreated, the risk of development of adenocarcinoma is 100%.[2] The diagnosis is usually established by colonoscopy and biopsy when more than 100 polypi are seen.[3]

Apart from colorectal adenocarcinoma, the patients of FAP have high chances of developing extracolonic diseases. The frequency of adenomas in upper GIT varies among experiences, reaching 90%.[4] So the necessity to include upper GI endoscopic examination is generally accepted in followup. Other FAP-associated neoplasms include Gardner’s syndrome (FAP, papillary thyroid carcinoma, carcinoma of ampulla of Vater, childhood hepatoblastoma); adrenal malignancies and Turcot’s syndrome (FAP, neuroepithelial CNS tumours).[5] Another important emerging disease is aggressive fibromatosis (desmoids), which appear in approximately 15% of patients.2

Fig. 4
Fig. 4 : Photomicrograph (H and E, x 160) showing tubular and dilated colonic glands in a compact fibrous stroma. the glands are lined by cubodial to stratified columnar epithelium with mucinous cytoplasm.

Surgical approaches employed for FAP are as follows:

1. Total proctocolectomy with permanent ileostomy : Due to many complications including psychotrauma, permanent ileostomy is not accepted to most of the patients.

2. Total colectomy with ileorectal anastomosis : It preserves the continence, but the risk of malignancy in rectal adenomas can’t be underweighed and regular followup is necessary. Carcinoma may develop in areas of rectal dysplasias which may be missed even on careful examination. This procedure also requires temporary ileostomy, which itself and its closure may be a source of significant complications.[6]

3. Total proctocolectomy with ileal pouch-anal anastomosis : It ensures complete removal of the disease. But the complications[7] include anastomotic stricture, pelvic sepsis, small bowel obstruction, night seepage, increased stool frequency if the pouch is small, bouts of constipation if the pouch is large, repeated pouchitis with resultant loss of continence and permanent ileostomy, injury to pelvic nerves causing retrograde ejaculation or impotence in males. It also requires temporary ileostomy.

4. Boley’s modification of Soave’s procedure : It is basically employed for total colonic agangliosis. Study of two serieses of FAP, treated with this procedure highlights its advantages over previously prescribed procedures.[3],[9] Rectal continence is maintained in this procedure. But the complications include anastomotic leak, enterocutaneous fistula, resultant pelvic abscesses; which may demand for permanent ileostomy.[3] This procedure also requires temporary ileostomy.

5. Soave’s procedure : As employed in the presented case; ileoanal anastomosis by bringing the terminal ileum through the muscular rectal tube which is done in Soave’s procedure was not performed. In stead; the distal ileum was brought down through the anorectal sleeve, kept projected out and fibrosis was allowed to take place between the anorectum and distal ileum. After 2 months, the redundant ileum was excised flush to the anal verge. This procedure maintains rectal continence. It is devoid of anastomosis and temporary ileostomy is not required. Thus this procedure is free from complications which occur by other described methods.

Our patient recovered smoothly. She is fully continent and passes 4-5 stools per day. She is not on any bulking or antimotility agents. She has gained 3 kg of weight in 5 months. Subtle changes in dietary intake and lifestyle may be partly responsible for the improvement. Our procedure can be employed in the patients of any age group and in other conditions like total colonic ulcerative proctocolitis.

  1. Nishisho I, Nakamura Y, Miki Y, Ando H, Horii, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 1991; 253 : 665-69.
  2. Iwama T, Mishima Y, Utsunomiya J. The impact of familial adenomatous polyposis on the tumorigenesis and mortality at the several organs. Its rational treatment. Ann Surg 1993; 217 : 101-8.
  3. Shilyansky J, Lelli JL, Drongwski RA, et al. Efficacy of the straight endorectal pull-through in the management of familial adenomatous polyposis : a 16-year experience. J Paed Surg 1997; 32 (8) : 1139-43.
  4. Spiegelman AD, Williams CB, Talbot IC, et al. Upper gastrointestinal cancer in patients with familial adenomatous polyposis. Lancet 1992; ii : 783-85.
  5. Lucio B, Presciuttini S, Paola S, et al. Causes of death and postsurgical survival in familial adenomatous polyposis : results from Italian registry. Seminars in Surgical Oncology. 1994; 10 : 225-34.
  6. Cohen Z, McLeod RS, Stephen W, et al. Continuing evolution of the pelvic pouch procedure. Ann Surg 1992; 216 : 506-11.
  7. Salemans JMJI, Nagengast FM. Clinical and physiological aspects of ileal pouch-anal anastomosis. Scand J Gastroenterol 1995; 30 Suppl 212 : 3-12.
  8. Boley SJ. New modification of the surgical treatment of Hirschsprung’s disease. Surgery 1964; 56 : 1015.
  9. Martin LW, Le Coultre C, Schubert WK. Total colectomy and mucosal proctectomy with preservation of continence in ulcerative colitis. Ann Surg 1977; 186 : 477-80.

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