ABSTRACT
Familial adenomatous polyposis is a genetically inherited disease with very high risk of colorectal cancer and with a large expression of multiple extracolonic malignancies. In recent years two surgical options are available for the treatment of FAP: total colectomy with ileorectal anastomosis and restorative proctocolectomy with ileoanal reservoir. The preservation of the rectum offers good quality of life and good functional results, but needs an accurate surveillance of the rectal stump and screening for the development of cancer. Restorative proctocolectomy is reserved for patients with large or confluent polyps of the rectum, for older patients and for those who had already had an ileorectal anastomosis and who develops subsequently large adenomas at increased risk for rectal cancer. Prophylactic procedures of surveillance, screening and surgery have reduced in patients at risk the incidence of colorectal cancer. But recently an increased number of malignant extracolonic tumors (gastric cancer, duodenal and periampullary cancer, small intestinal cancer, adrenal and thyroid cancer) and abdominal desmoid tumors, that causes a significant mortality, has been documented. The knowledge of the extracolonic features of FAP suggests a careful follow-up of the patients and the prevention and treatment of upper gastrointestinal cancers and desmoid disease.
