Abstract:

Familial adenomatous polyposis (FAP) is a hereditary syndrome characterized by multiple adenomatous polyps in the colon and rectum. The broad definition of FAP includes all patients with adenomatous polyposis; the narrow definition of FAP only includes patients with adenomatous polyposis caused by germline APC gene mutations. Patients with FAP will develop dozens or even thousands of colorectal adenomatous polyps, with extremely high risks of colorectal cancer. Prophylactic total proctocolectomy (TPC) or total colectomy (TC) is the standard treatment for FAP. In recent years, endoscopic treatment of colorectal cancer polyps in FAP patients has achieved great progress. It can not only be used to cure attenuated FAP, but also can be used to treat patients with classic FAP to postpone the timing of TPC/TC. In addition, after TPC/TC, FAP patients also require regular endooscopic monitoring and treatment to prevent cancer in the residual rectum, ileal pouch and anal transition zone. With the continuous advancement of endoscopic examination and treatment methods, the indications of endoscopic polypectomy are gradually expanding, and the number and size of polyps that can be treated by endoscopic treatment have been increasing. The timing of TPC/TC has being postponed, and the rectum could be retained in more and more patients with FAP. Endoscopic treatment of FAP will help improve patient’s urinary, defecation and sexual function, and improve their quality of life. However, due to the required repeated procedures, it carries high risks of intestinal bleeding, perforation and canceration, and its treatment cost is also very high. Further studies are required to evaluate its long-term results and cost-effectiveness.

Key words: Familial adenomatous polyposis, Colon polyp, Rectal polyp, Residual rectum, Ileal pouch, Endoscopic treatment