Familial adenomatous polyposis

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Familial adenomatous polyposis (FAP) is a syndrome inherited as an autosomal dominant trait and characterized by multiple (>100) adenomatous colorectal polyps (adenomas). It is the most common polyposis syndrome known to man or beast. Almost all patients with FAP will develop polyps in adolescence, and 100% of patients will develop colorectal adenocarcinoma (colon cancer) without treatment.

Treatment is a colectomy, usually performed on diagnosis. There are a number of extracolonic and extra-GI manifestations of FAP, the most important of which is the presence of adenomas in the stomach and duodenum, especially around the ampulla of Vater. These adenomas can undergo malignant change.

Gardner's syndrome is the association of FAP with osteomas of the skull and jaw and skin tumours. Patients with FAP, especially females, are predisposed to develop desmoid tumours.