[Familial adenomatous polyposis: what is new for the clinician?]

Familial adenomatous polyposis (FAP) is a rare autosomal-dominant disease characterized by the development of more than 100 colorectal adenomatous polyps in young adults. In the absence of surgical intervention, colorectal cancer ineluctably develops in all affected patients. Recent progress in the isolation of the gene responsible for the disease allows to detect gene carriers before they present with symptoms attributable to polyps. Moreover, the presence of four or more lesions of congenital hypertrophy of the retinal pigment epithelium is an extracolonic manifestation of FAP allowing presymptomatic screening of this disease. An effective screening programme combined with the elaboration of a registry for FAP and prophylactic colectomy should reduce mortality related to colorectal cancer. Two other extracolonic manifestations of FAP remain major causes of death: abdominal desmoid tumors and duodenal adenocarcinoma. At this time, no effective medical or surgical therapy has been found to cure these lesions. Restorative proctocolectomy with ileal reservoir is another major advance. This procedure is now regarded as the treatment of choice for patients with FAP because radical removal of all premalignant colorectal mucosa eliminates the risk of subsequent development of a colorectal adenocarcinoma.