Please use this identifier to cite or link to this item:
|Title:||Uses of a familial adenomatous polyposis registry|
|Publisher:||Sri Lanka Medical Association|
|Citation:||The Ceylon Medical Journal; 56(2): pp.66-69|
|Abstract:||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.|
|Appears in Collections:||Journal/Magazine Articles|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.