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Phenotype and management of patients with familial
adenomatous polyposis in Hong Kong: perspective of the Hereditary
Gastrointestinal Cancer Registry
JWC Ho, KM Chu, CW Tse, ST
Yuen
Department of Surgery, The University of Hong Kong, Queen Mary Hospital,
102 Pokfulam Road, Hong Kong
OBJECTIVES. To report on the phenotypic spectrum
and clinical management of Chinese patients suffering from the rare
autosomal dominant colorectal cancer syndrome of familial adenomatous
polyposis.
DESIGN. Analysis of prospectively collected data from the database
of a regional registry.
SETTING. The Hereditary Gastrointestinal Cancer Registry, Hong Kong.
PATIENTS. One hundred and eight patients with proven familial adenomatous
polyposis from 36 local Chinese families with the condition recruited
to the Registry from 1995 to 2001.
INTERNVENTIONS. Screening programme for at-risk family members,
prophylactic surgery at presymptomatic diagnosis, and surveillance
programme for extracolonic lesions in affected individuals.
MAIN OUTCOME MEASURES. Rate of colorectal cancer, type of surgical
treatment, spectrum of extracolonic lesions, and management of the
syndrome.
RESULTS. Fifty patients suffered from colorectal cancer with a mortality
rate of 78.0%. The strategy of presymptomatic diagnosis by screening
and appropriate prophylactic surgery reduced the incidence of colorectal
cancer. Affected individuals were prone to develop potentially serious
extracolonic lesions including thyroid cancer (5.7%), desmoid tumour
(15.7%), gastroduodenal adenomas (7.1%), duodenal microadenoma (17.1%),
and pouch polyposis (17.4%).
CONCLUSIONS. Screening and prophylactic surgery are effective ways
to prevent colorectal cancer for patients with familial adenomatous
polyposis. Lifelong regular surveillance is necessary to detect
and manage extracolonic lesions. A dedicated registry is essential
to coordinate clinical management and to compile data for furthering
knowledge of this rare but complex syndrome.
Hong Kong Med J 2002;8:342-7
Key words: Adenoma; Familial adenomatous polyposis;
Phenotype; Registries
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