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Uses of a familial adenomatous polyposis registry

Authors:

KUA Dalpatadu ,

Department of Surgery, University of Kelaniya, LK
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N Anwar,

Department of Surgery, University of Kelaniya, LK
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SRE Wijesuriya,

Department of Surgery, University of Kelaniya, LK
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SK Kumarage,

Department of Surgery, University of Kelaniya, LK
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B Amarasinghe,

Ophthalmology Unit, North Colombo Teaching Hospital, Ragama, LK
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KI Deen

Department of Surgery, University of Kelaniya, LK
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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.

(Index words: familial adenomatous polyposis; colorectal cancer; polyposis register)

DOI: http://dx.doi.org/10.4038/cmj.v56i2.3112

Ceylon Medical Journal 2011; 56: 66-69

DOI: https://doi.org/10.4038/cmj.v56i2.3112
How to Cite: Dalpatadu, K., Anwar, N., Wijesuriya, S., Kumarage, S., Amarasinghe, B. and Deen, K., 2011. Uses of a familial adenomatous polyposis registry. Ceylon Medical Journal, 56(2), pp.66–69. DOI: http://doi.org/10.4038/cmj.v56i2.3112
Published on 21 Jun 2011.
Peer Reviewed

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