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Peutz-Jeghers Syndrome

Opeoluwa Olukorede, MD Reviewed 04/2024
 


BASICS

DESCRIPTION

  • Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant (AD), inherited condition characterized by the development of unique benign hamartomatous polyps throughout the gastrointes...

DIAGNOSIS

HISTORY

  • PJS may be discovered incidentally usually by suggestive mucosal hyperpigmentation or by family history.

  • Half of patients affected by PJS presented by age 20 years with recurrent abdom...

TREATMENT

There are a few therapeutic options for PJS. 
  • Management primarily involves minimizing symptoms by screening for long-term complications (surveillance).

  • Surgical strategies are common for mana...

ONGOING CARE

PATIENT EDUCATION

Given the familial nature and increased lifetime risk of cancer in PJS, patients benefit from education on genetic testing, disease course, associated complications, and ...

REFERENCES

1
Tacheci I, Kopacova M, Bures J. Peutz-Jeghers syndrome. Curr Opin Gastroenterol. 2021;37(3):245-254. PMID: 33591027. doi: 10.1097/MOG.0000000000000718.
2
Syngal S, Brand RE, Church JM, et al...

ADDITIONAL READING

Sengupta S, Bose S. Peutz-Jeghers syndrome. N Engl J Med. 2019;380(5):472.  

CODES

ICD10

  • Q85.8 Other phakomatoses, not elsewhere classified

  • K31.7 Polyp of stomach and duodenum

  • K63.5 Polyp of colon

SNOMED

  • 54411001 Peutz-Jeghers syndrome (disorder)

  • 53633000 Peutz-Jeghers polyps of sma...

CLINICAL PEARLS

  • Consider hereditary polyposis syndromes in the following:

    • Cancer at very young age compared with usual presentation

    • Presence of multiple tumors, especially hamartomas

    • Family history of si...

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