THE TECHNICAL BACKGROUND OF FAMILIAL ADENOMATOUS POLYPOSIS - HISTORY,EPIDEMIOLOGY, DIAGNOSIS AND TREATMENT

Familial adenomatous polyposis (FAP) is a dominantly inherited genetic disorder predisposing to colon cancer through the early development o f multiple adenomatous polyps in the large bowel. FAP is not restricte d to the colon and rectum, but is a more complex disease which can pot entially affect almost any organ not only with benign tumours but also with life threatening carcinomas. Desmoid tumours and gastroduodenal polyps and cancer are the two more worrying extracolonic manifestation s of FAP. Recent advances in FAP knowledge, such as the report of cong enital hypertrophy of the retinal pigment epithelium (CHRPE) or the AP C gene identification, are very useful for screening and long-term fol low-up of the patients through regional or national registries. Nutrit ional and pharmacological intervention trials are under way to assess potential new medical treatments of FAP. Surgery is still the only eff ective treatment for colorectal cancer prevention in FAP. The choice o f a surgical procedure is controversial, but the introduction of total proctocolectomy with ileal pouch-anal anastomosis can be considered a s a major advance in surgical treatment of FAP during the last decade.