Familial Adenomatous Polyposis; 30-Year Observation of a Female Patient – Case Report

Familial adenomatous polyposis (FAP) is a colorectal cancer syndrome caused by a germline mutation inherited in an autosomal-dominant pattern with a 100% penetrance.

Our detailed case report presents a history of a 55-year-old FAP female patient who had been under constant clinical observation for 30 years. The disease was diagnosed at the age of 22. The patient underwent restorative proctocolectomy with ileal pouch-anal anastomosis (PRC-IPAA). During our follow-up extra-colonic manifestations occurred such as a desmoidtumour, fundic gland polyps in the stomach and duodenal polyps also in the periampullary region. Apart from disease-related symptoms the patient manifested other complications such as small bowel adhesive obstruction, benign breast tumours, uterine myomas, cholelithiasisand thyroid nodules.

Our analysis of the above case presents advantages of a long-term medical observation of a FAP patient carried out by a specialist surgical medical centre