Uses of a familial adenomatous polyposis registry
K U A Dalpatadu1, N Anwar, S R E Wijesuriya
1Department of Surgery, University of Kelaniya, Sri Lanka. udalpatadu@gmail.com
Insights
Establishing a familial adenomatous polyposis (FAP) register enables early diagnosis and prophylactic treatment, improving patient prognosis. This coordinated approach optimizes clinical management for FAP patients and at-risk relatives.
Area of Science:
- Gastroenterology
- Clinical Genetics
- Oncology
Background:
- Familial adenomatous polyposis (FAP) is an inherited condition predisposing individuals to colorectal cancer.
- Early diagnosis and proactive management are crucial for improving FAP patient outcomes.
- A coordinated registry system can enhance the identification and care of at-risk individuals.
Purpose of the Study:
- To establish and analyze a prospective database for a Familial Adenomatous Polyposis (FAP) registry.
- To improve the prognosis of FAP patients through early detection and prophylactic treatment.
- To coordinate and optimize the clinical management of FAP patients and their relatives.
Main Methods:
- Establishment of a prospective FAP registry database.
- Ascertainment of probands, pedigree construction, and genetic counseling for at-risk relatives.
- Prophylactic screening, treatment, and follow-up of individuals identified with FAP or at risk.
Main Results:
- The registry identified 27 probands, with 206 relatives at risk, and screened 24 family members.
- Thirty-five individuals were diagnosed with FAP, including 8 detected through screening and 27 symptomatic cases.
- Colorectal cancer was detected in 63% of symptomatic and 13% of screen-detected FAP patients. Extraintestinal manifestations were also noted.
Conclusions:
- A polyposis register facilitates early detection of Familial Adenomatous Polyposis (FAP), potentially improving patient prognosis.
- The registry aids in coordinating and streamlining the clinical management of FAP patients and their at-risk family members.
- Systematic registration and screening are vital for optimizing care and outcomes in hereditary polyposis syndromes.
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.
