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 FAP
Risk factors
- germline APC gene mutation
- family history of FAP or attenuated FAP
Diagnostic investigations
1st investigations to order
- colonoscopy
- extended-side-viewing esophagogastroduodenoscopy (EGD)
Investigations to consider
- genetic testing
- abdominal imaging with CT or MRI
Treatment algorithm
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.
Differentials
- MutYH polyposis
- Juvenile polyposis
- Peutz-Jeghers syndrome
More DifferentialsGuidelines
- Informed consent for GI endoscopic procedures
- Guidelines for the management of hereditary colorectal cancer
More GuidelinesPatient leaflets
Colon and rectal cancer: what is it?
Colon and rectal cancer: what treatments work?
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