Familial adenomatous polyposis syndromes

Last reviewed: 1 Sep 2022
Last updated: 06 Apr 2022

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
More key diagnostic factors

Other diagnostic factors

  • constipation/diarrhea
  • hematochezia
  • extraintestinal features of FAP
Other diagnostic factors

Risk factors

  • germline APC gene mutation
  • family history of FAP or attenuated FAP
More risk factors

Diagnostic investigations

1st investigations to order

  • colonoscopy
  • extended-side-viewing esophagogastroduodenoscopy (EGD)
More 1st investigations to order

Investigations to consider

  • genetic testing
  • abdominal imaging with CT or MRI
More investigations to consider

Treatment algorithm

ACUTE

FAP: surgery acceptable to patient

FAP: patient averse to immediate surgery with no contraindications to delayed surgery

attenuated FAP

Contributors

Authors

Priyanka Kanth, MD, FACG

Associate Professor

Internal Medicine

University of Utah

Salt Lake City

UT

Disclosures

PK is a co-investigator for multicenter clinical trials in familial adenomatous polyposis funded by the National Cancer Institute and Janssen Pharmaceutica.

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

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.

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