Peutz-Jeghers syndrome

Last reviewed: 2 Sep 2022
Last updated: 29 Sep 2022

Summary

Definition

History and exam

Key diagnostic 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 gynecomastia
  • fatigue
  • pallor
Other diagnostic factors

Risk factors

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

Diagnostic investigations

1st investigations to order

  • endoscopy
  • magnetic resonance enterography
  • 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

Luke Engelking, MD

Associate Professor of Internal Medicine

UT Southwestern Medical Center

Dallas

TX

Disclosures

LE is a Principal Investigator for, and has received grant support from, the National Institutes of Health-National Institute of Diabetes and Digestive and Kidney Diseases (NIH-NIDDK) and the Cancer Prevention and Research Institute of Texas.

Po-Hong Liu, MD

Fellow

UT Southwestern Medical Center

Dallas

TX

Disclosures

PL declares that he has no competing interests.

Acknowledgements

Dr Luke Engelking and Dr Po-Hong Liu would like to gratefully acknowledge Dr Brandie Heald, Dr James Church, and Dr Carol A. Burke, previous contributors to this topic.

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. JC declares that he has no competing interests. 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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