Management of familial adenomatous polyposis and MUTYH-associated polyposis; new insights

Best Pract Res Clin Gastroenterol. 2022 Jun-Aug:58-59:101793. doi: 10.1016/j.bpg.2022.101793. Epub 2022 Mar 16.


Familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) are rare inherited polyposis syndromes with a high colorectal cancer (CRC) risk. Therefore, frequent endoscopic surveillance including polypectomy of relevant premalignant lesions from a young age is warranted in patients. In FAP and less often in MAP, prophylactic colectomy is indicated followed by lifelong endoscopic surveillance of the retained rectum after (sub)total colectomy and ileal pouch after proctocolectomy to prevent CRC. No consensus is reached on the right type and timing of colectomy. As patients with FAP and MAP nowadays have an almost normal life-expectancy due to adequate treatment of colorectal polyposis, challenges in the management of FAP and MAP have shifted towards the treatment of duodenal and gastric adenomas as well as desmoid treatment in FAP. Whereas up until recently upper gastrointestinal surveillance was mostly diagnostic and patients were referred for surgery once duodenal or gastric polyposis was advanced, nowadays endoscopic treatment of premalignant lesions is widely performed. Aiming to reduce polyp burden in the colorectum as well as in the upper gastrointestinal tract, several chemopreventive agents are currently being studied.

Keywords: Chemoprevention; Colorectal cancer; Colorectal surgery; Endoscopic surveillance; Familial adenomatous polyposis; MUTYH-Associated polyposis.

Publication types

  • Review

MeSH terms

  • Adenomatous Polyposis Coli* / diagnosis
  • Adenomatous Polyposis Coli* / genetics
  • Adenomatous Polyposis Coli* / surgery
  • Adenomatous Polyps
  • Colorectal Neoplasms* / prevention & control
  • Humans
  • Stomach Neoplasms*

Supplementary concepts

  • Colorectal Adenomatous Polyposis, Autosomal Recessive
  • Polyposis, Gastric