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 adenomatous polyposis coli (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
attenuated FAP
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 is a co-investigator for multicenter clinical trials in familial adenomatous polyposis funded by the National Cancer Institute and Janssen Pharmaceutica. She has also served on the advisory board for Provepharm. She has a patent on sessile serrated colon polyp biomarker.
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
- NCCN clinical practice guidelines in oncology: genetic/familial high-risk assessment: colorectal
- Informed consent for GI endoscopic procedures
More GuidelinesPatient leaflets
Colon and rectal cancer: what is it?
Colon and rectal cancer: what treatments work?
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