Role of Endoscopy in Familial Adenomatous Polyposis Syndromes
Patient Guideline Summary
Publication Date: March 10, 2020
This patient summary means to discuss key recommendations from the American Society for Gastrointestinal Endoscopy (ASGE) for the role of endoscopy in familial adenomatous polyposis syndromes. It is limited to adults 18 years of age and older and should not be used as a reference for children.
- Familial adenomatous polyposis is a hereditary medical condition that usually causes cancer of the colon (large bowel).
- There are three major genetic mutations in this family:
- FAP – dominant mutations of the adenomatous polyposis coli gene (APC)
- Attenuated FAP (AFAP) – reduced risk dominant mutations of the APC gene
- MUTYH-associated polyposis (MAP) – A recessive mutation of the MUTHY gene.
- This summary will use FAP to refer to the disease.
- Symptoms include rectal bleeding or other nonspecific GI symptoms, but screening before symptoms appear is recommended.
- The incidence of several other cancers is also increased.
- This patient summary focuses on the prevention of FAP-related cancers.
- Regular endoscopic screening is recommended.
- Screening every 1–2 years for FAP should begin at age 10–12 years.
- Screening every 1–2 years for AFAP and MAP should begin at the age of 18–20 years.
- Screening every 6 months to 2 years should begin 1 year after total colectomy (removal of the large bowel).
- Screening every 6 months to 1 year should begin 6 months after subtotal colectomy.
- Screening should include both the upper and lower GI tract (gut).
- ASGE recommends genetic counseling and testing for all first-degree relatives of confirmed polyposis patients.
- ASGE recommends endoscopic removal of all polyps (benign growths) over 1 cm in diameter, suspicious-looking polyps, and those in likely locations for cancer development.
- ASGE recommends surgical removal of all or most of the colon to prevent cancer.
- Chemicals to prevent cancer are currently available only in major centers and clinical trials.
- AFAP: Attenuated FAP
- APC: Adenomatous Polyposis Coli
- ASGE: American Society For Gastrointestinal Endoscopy
- FAP: Familial Adenomatous Polyposis
- GI: Gastrointestinal
- MAP: MUTYH-associated Polyposis
Yang J, Gurudu SR, Koptiuch C, Agrawal D, Buxbaum JL, Abbas Fehmi SM, Fishman DS, Khashab MA, Jamil LH, Jue TL, Law JK, Lee JK, Naveed M, Qumseya BJ, Sawhney MS, Thosani N, Wani SB, Samadder NJ. American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes. Gastrointest Endosc. 2020 May;91(5):963-982.e2. doi:10.1016/j.gie.2020.01.028. Epub 2020 Mar 10. PMID: 32169282.
The information in this patient summary should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.