Last reviewed: 8 Nov 2021
Last updated: 24 Aug 2021

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/diarrhoea
  • haematochezia
  • extraintestinal features of FAP

Risk factors

  • germline APC gene mutation
  • family history of FAP or attenuated FAP

Diagnostic investigations

1st investigations to order

  • colonoscopy
  • extended-side-viewing oesophagogastroduodenoscopy (EGD)

Investigations to consider

  • genetic testing
  • abdominal imaging with CT or MRI

Treatment algorithm

Contributors

Authors

Priyanka Kanth, MD, FACG

Associate Professor

Internal Medicine

University of Utah

Salt Lake City

UT

Disclosures

PK is a co-investigator for multicentre 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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