Familial adenomatous polyposis. Recent developments in diagnosis and treatment

Familial adenomatous polyposis (FAP) is a hereditary disease characterized by the presence from tens to thousands of colonic adenomatous polyps. Great phenotypic variability can be observed, regarding the numbers of adenomatous polyps and the number, type and timing of appearance of extraintestinal manifestations. Recent advances in the understanding of the molecular biology of FAP, along with the systematic study of registered patients in national FAP databases and continuous research in the field of development of drugs that could alter the course of the disease, are changing the way the disease is being diagnosed, treated and monitored. The diagnosis of FAP can be made by genetic testing and the finding of multiple adenomatous polyps during colonoscopy. Treatment consists of resection of the colonic mucosa before colorectal cancer develops, coupled with an intensive follow-up program for the early detection of malignant degeneration of residual intestinal mucosa or suspicious extraintestinal manifestations.