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Background: Familial Adenomatous Polyposis (FAP) is an autosomal dominant condition giving rise to multiple adenomatous polyps in the colon which invariably become malignant by the fourth decade. Congenital hypertrophy of retinal pigment epithelium (CHRPE) is one of its extra intestinal manifestations early in childhood seen, present in 90% of FAP population and is easy to detect., Findings: Patients diagnosed with FAP and at risk first degree family members were screened for CHRPE using a slit lamp and indirect ophthalmoscopy. The retina of 17 diagnosed FAP patients and 13 individuals at risk were examined. The site and size of CHRPE lesions were documented. Thirteen (76%) of 17 FAP patients (male-10, female - 7, median age - 30 years; range 15-55 years) had CHRPE lesions; seven (54%) had bilateral CHRPE lesions and six (46%) had unilateral lesions. A single lesion was detected in 6 (46%) while 7 (54%) patients had multiple lesions. Of 13 at risk individuals (7- male, female-6 ; median age 34; range 16-52 years), one was positive for CHRPE and 12 were free of retinal lesions. The sensitivity of the presence of a CHRPE lesion in association with colonic polyps in FAP was 76%, specificity 92%, positive predictive value 93%, and negative predictive value 75%., Conclusions: This study found a high sensitivity and specificity for a CHRPE lesion to be associated with colonic polyps of FAP and hence a useful screening method in a burdened health-care system. The method is minimally invasive and simple and would be of particular value in screening children at risk for FAP.

Objectives: To improve the prognosis of patients with familial adenomatous polyposis (FAP) by early diagnosis and prophylactic treatment through a coordinated FAP register., Design: The establishment and descriptive analysis of the prospective database of the FAP registry., Setting: University surgical unit, Colombo North Teaching Hospital Ragama, Sri Lanka., Patients: Probands were identified by tracing all diagnosed FAP patients from 1996 to 2010 and their family members at risk., Interventions: The establishment of a polyposis register included the following stages: ascertainment of probands (first contact symptomatic FAP patients), construction of pedigrees, counselling relatives and prophylactic screening of family members at risk, treatment and follow up., Results: Twenty seven enrolled probands (12 male and 15 female, age 11-52 years, median age 34 years) were investigated. Pedigree analyses showed 206 relatives at risk. Twenty four family members at risk were screened of a total of 51 registered individuals. The rate of spontaneous mutations was 41%. Thirty five were diagnosed with FAP. Eight were screen detected (median age - 32 years) and 27 symptomatic (median age - 34 years). Concomitant colorectal cancer was detected in 17 (63%) symptomatic individuals and in 1 (13%) screen detected individual. Colectomy was performed in 27 (77%) patients while 8 (23%) are on chemoprophylaxis. Congenital hypertrophic retinal pigment epithelium was detected in 15. Desmoids tumours (6%) and other extraintestinal manifestations including osteomas, sebacious cysts and dental abnormalities (34%) were also detected. A thyroid gland malignancy was screen detected while retinoblastoma, hepatoblastoma and cerebral tumours were seen in pedigrees., Conclusions: A polyposis register may improve prognosis of FAP by early detection. It will help coordinate, optimise and streamline clinical management of patients with FAP and their relatives at risk.

A non-randomized prospective study of 38 patients, 32 with ulcerative colitis and six with familial adenomatous polyposis (FAP), who underwent high or low anal transection during stapled restorative proctocolectomy was undertaken. The median (range) height of the staple line 6 months after operation was 5.2 (3.2-6.0) cm after high transection compared with 2.9 (1.8-3.6) cm after low transection. Nineteen of 20 patients after high anal transection had columnar epithelium in the distal 'doughnut' versus 16 of 18 after low transection. Active colitis was present in 12 of 19 'doughnuts' in patients with high anal transection and columnar mucosa and in seven of 16 after low transection. Nine patients (high transection two, low transection seven; P < 0.05) had striated muscle in the stapled distal 'doughnut'. Dysplasia was found in the resected colon in one patient with ulcerative colitis and adenocarcinoma in two colectomy specimens (ulcerative colitis, one; FAP, one). No dysplasia or carcinoma was seen in any of the 'doughnuts' from patients with ulcerative colitis. Four patients with FAP (high transection, two; low transection, two) had microadenoma in the distal 'doughnut'. Despite attempts to place a stapled pouch-anal anastomosis below the anal transition zone, it was not possible to remove columnar mucosa completely from the remaining anal canal in most patients (16 of 18). High anal transection and pouch-anal anastomosis should be the preferred option in restorative proctocolectomy, as a dentate-line anastomosis may not fully eliminate columnar epithelium and may involve resection of some of the external sphincter.