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
Other diagnostic factors
- constipation/diarrhea
- hematochezia
- extraintestinal features of familial adenomatous polyposis (FAP)
Risk factors
- germline adenomatous polyposis coli (APC) gene mutation
- family history of familial adenomatous polyposis (FAP) or attenuated FAP
Diagnostic tests
1st tests to order
- genetic testing
Treatment algorithm
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
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Referências
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.
Diagnósticos diferenciais
- MUTYH polyposis
- Juvenile polyposis
- Peutz-Jeghers syndrome
Mais Diagnósticos diferenciaisDiretrizes
- 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 DiretrizesFolhetos 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 pacientesConectar-se ou assinar para acessar todo o BMJ Best Practice
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