Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- small intestinal obstruction
- mucocutaneous pigmentation
Other diagnostic factors
- abdominal discomfort and distension
- abdominal pain
- gastrointestinal bleeding
- polyp prolapse per anus
- enlarged testicles (without masses)
- bilateral gynaecomastia
- fatigue
- pallor
- signs of cardiac failure
Diagnostic investigations
Treatment algorithm
Contributors
Authors
Licensed Genetic Counselor
Genomic Medicine Institute
Sanford R. Weiss Center for Hereditary Colorectal Neoplasia
Cleveland Clinic
Cleveland
OH
Disclosures
BH declares that she has received payment from the following but has no contractual agreement to disseminate product information for them: Speakers Bureau Myriad Genetics Lab, and the advisory board for Invitae. BH is also President of the Collaborative Group of the Americas on Inherited Colorectal Cancer, for which she does not receive payment.
Victor W. Fazio Chair
Department of Colorectal Surgery
Digestive Disease Institute
Cleveland Clinic
Director
Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia
Cleveland Clinic
Cleveland
OH
Disclosures
JC declares that he has no competing interests.
Director
Center for Colon Polyp and Cancer Prevention
Department of Gastroenterology and Hepatology
Associate Director
Sanford R. Weiss Center for Hereditary Colorectal Neoplasia
Section of Polyposis
Digestive Disease Institute
Cleveland Clinic
Cleveland
OH
Disclosures
CAB receives research support from Cancer Prevention Pharmaceuticals.
Peer reviewers
Chief of Pediatric Surgery
University of North Carolina
Chapel Hill
NC
Disclosures
DVA declares that he has no competing interests.
Consultant in Clinical Genetics
Department of Medical Genetics
Belfast HSC Trust
Belfast
UK
Disclosures
PM declares that he has no competing interests.
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