Last reviewed: November 2017
Last updated: November  2016

Summary

Definition

History and exam

Key diagnostic 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 gynecomastia
  • fatigue
  • pallor
  • signs of cardiac failure

Risk factors

  • positive family history
  • germline STK11 gene mutation

Diagnostic investigations

1st investigations to order

  • endoscopy
  • polyp histology
  • STK11 genetic testing
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

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 VIEW ALL

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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