Peutz-Jeghers syndrome

Last reviewed: 21 Apr 2022
Last updated: 31 Jan 2019

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • small intestinal obstruction
  • mucocutaneous pigmentation
More key diagnostic factors

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
Other diagnostic factors

Risk factors

  • positive family history
  • germline STK11 gene mutation
More risk factors

Diagnostic investigations

1st investigations to order

  • endoscopy
  • polyp histology
  • STK11 genetic testing
More 1st investigations to order

Treatment algorithm

ACUTE

initially confirmed polyposis: symptomatic or asymptomatic

ONGOING

following initial surveillance colonoscopy

Contributors

Authors

Brandie Heald, MS, LGC

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.

James Church, MD

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.

Carol A. Burke, MD, FACP, FACG, FASGE

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

Daniel Von Allmen, MD

Chief of Pediatric Surgery

University of North Carolina

Chapel Hill

NC

Disclosures

DVA declares that he has no competing interests.

Patrick Morrison, MD

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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