When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Familial adenomatous polyposis syndromes

Last reviewed: 21 Sep 2025
Last updated: 07 Jan 2025

Summary

Definition

History and exam

Key diagnostic factors

  • family history of FAP/attenuated FAP
  • teenager
  • onset of colorectal cancer in middle age
  • bilateral pigmentation of the retina
Full details

Other diagnostic factors

  • constipation/diarrhea
  • hematochezia
  • extraintestinal features of familial adenomatous polyposis (FAP)
Full details

Risk factors

  • germline adenomatous polyposis coli (APC) gene mutation
  • family history of familial adenomatous polyposis (FAP) or attenuated FAP
Full details

Diagnostic tests

1st tests to order

  • genetic testing
Full details

Treatment algorithm

ACUTE

FAP: without colonic adenomas

FAP: with colonic adenomas

attenuated FAP: without colonic adenomas

attenuated FAP: with colonic adenomas

Contributors

Authors

Priyanka Kanth, MD, MS, FACG, AGAF

Associate Professor of Medicine

Division of Gastroenterology

MedStar Georgetown University Hospital

Lombardi Comprehensive Cancer Center

Washington

DC

Disclosures

PK declares that she has no competing interests.

Acknowledgements

Dr Priyanka Kanth would like to gratefully acknowledge Dr Charles A. Ternent, Dr Alan G. Thorson, Dr Lisa A. Boardman, and Dr Douglas L. Riegert-Johnson, the previous contributors to this topic.

Disclosures

CAT, AGT, LAB, and DLRJ declare that they have no competing interests.

Peer reviewers

Galen Leung, MD

Assistant Professor of Clinical Medicine

Perelman School of Medicine

University of Pennsylvania

Philadelphia

PA

Disclosures

GL declares that he has no competing interests.

Jatin Roper, MD

Assistant Professor of Medicine

Duke University School of Medicine

Duke University

Durham

NC

Disclosures

JR declares that he is a consultant for Microbial Machines.

Yann Parc, MD, PhD

Professor of General Surgery

Department of Digestive Surgery

Hopital Saint-Antoine

Universite Pierre et Marie Curie Paris VI

Paris

France

Declarações

YP declares that he has no competing interests.

Gabriela Moslein, MD

Editorial Board

Allgemein- und Viszeralchirurgie

St Josefs-Hospital Bochum-Linden

Dusseldorf

Germany

Declarações

GM declares that she has no competing interests.

Créditos aos pareceristas

Os tópicos do BMJ Best Practice são constantemente atualizados, seguindo os desenvolvimentos das evidências e das diretrizes. Os pareceristas aqui listados revisaram o conteúdo pelo menos uma vez durante a história do tópico.

Declarações

As afiliações e declarações dos pareceristas referem--se ao momento da revisão.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal, endometrial, and gastric [internet publication].Texto completo

Yang J, Gurudu SR, Koptiuch C, et al. American Society for Gastrointestinal Endoscopy guideline on the role of endoscopy in familial adenomatous polyposis syndromes. Gastrointest Endosc. 2020 May;91(5):963-82.e2.Texto completo  Resumo

Hyer W, Cohen S, Attard T, et al. Management of familial adenomatous polyposis in children and adolescents: Position paper from the ESPGHAN polyposis working group. J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):428-41.Texto completo  Resumo

Poylin VY, Shaffer VO, Felder SI, et al. The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the management of inherited adenomatous polyposis syndromes. Dis Colon Rectum. 2024 Feb 1;67(2):213-27.Texto completo  Resumo

Syngal S, Brand RE, Church JM, et al.; American College of Gastroenterology. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol. 2015 Feb;110(2):223-62. Resumo

Monahan KJ, Bradshaw N, Dolwani S, et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG). Gut. 2020 Mar;69(3):411-44.Texto completo  Resumo

Zaffaroni G, Mannucci A, Koskenvuo L, et al. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision. Br J Surg. 2024 May 3;111(5):znae070.Texto completo  Resumo

van Leerdam ME, Roos VH, van Hooft JE, et al. Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline. Endoscopy. 2019 Sep;51(9):877-895.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Familial adenomatous polyposis syndromes images
  • Diagnósticos diferenciais

    • MUTYH polyposis
    • Juvenile polyposis
    • Peutz-Jeghers syndrome
    Mais Diagnósticos diferenciais
  • Diretrizes

    • Clinical practice guidelines for the management of inherited polyposis syndromes
    • European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision
    Mais Diretrizes
  • Folhetos informativos para os pacientes

    Colon and rectal cancer: what is it?

    Colon and rectal cancer: what are the treatment options?

    Mais Folhetos informativos para os pacientes
  • padlock-lockedConectar-se ou assinar para acessar todo o BMJ Best Practice

O uso deste conteúdo está sujeito ao nosso aviso legal