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Síndromes da polipose adenomatosa familiar

Last reviewed: 18 Jun 2025
Last updated: 07 Jan 2025

Summary

Definition

History and exam

Key diagnostic factors

  • história familiar de polipose adenomatosa familiar (PAF)/PAF atenuada
  • adolescentes
  • início de câncer colorretal na meia idade
  • pigmentação bilateral da retina
Full details

Other diagnostic factors

  • constipação/diarreia
  • hematoquezia
  • características extraintestinais da polipose adenomatosa familiar (PAF)
Full details

Risk factors

  • mutação das linhas germinativas no gene da polipose adenomatosa do cólon (APC)
  • história familiar de polipose adenomatosa familiar (PAF) ou PAF atenuada
Full details

Diagnostic tests

1st tests to order

  • teste genético
Full details

Treatment algorithm

ACUTE

PAF: sem adenomas colônicos

PAF: com adenomas colônicos

PAF atenuada: sem adenomas colônicos

PAF atenuada: com adenomas colônicos

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

Disclosures

YP declares that he has no competing interests.

Gabriela Moslein, MD

Editorial Board

Allgemein- und Viszeralchirurgie

St Josefs-Hospital Bochum-Linden

Dusseldorf

Germany

Disclosures

GM declares that she has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

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

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

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. Abstract

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.Full text  Abstract

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.Full text  Abstract

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.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
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