Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features

摘要: Familial adenomatous polyposis (FAP) is an uncommon, but widespread genetic disorder that develops multiple colonic polyps and, if untreated, can lead to large bowel cancer. Little known about its occurrence and characteristics in the Israeli population. Aims: To evaluate FAP prevalence, phenotypic manifestations compliance for diagnosis follow-up our registry. Methods: Since 1993 approximately one-half of patients Israel have been seen followed-up by us before and/or after colectomy. They their families were encouraged mutation analysis, endoscopic screening. Results: 37 pedigrees identified, including 2 non-Jewish. The Jewish ethnic distribution was similar general population point prevalence rate estimated as 28.4/one million inhabitants. There 461 first-degree relatives at-risk FAP. Genetic screening completed successful 28 (87.5%), 73 entered Marked intra-familial variations with minimal disease manifestation noted 11 belonging 4 pedigrees. Cancer occurred 15.1% (11 patients), 10 or during elsewhere, one non-compliant patient developed duodenal One other died from a massive, neglected, intra-abdominal desmoid. Compliance evaluation pedigree members individual inadequate 29% 27%, respectively. Conclusions: occurs at expected rate, inadequately recognized non-Jews. post-surgical needs be addressed educating public, health care workers Health Insurers.