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Peutz-Jeghers syndrome

Guidelines

Key sources

The following summarized guidelines for the evaluation and management of Peutz-Jeghers syndrome are prepared by our editorial team based on guidelines from the European Society of Gastrointestinal Endoscopy (ESGE 2023,2019), the American Society for Gastrointestinal Endoscopy (ASGE 2022), the US Multi-Society Task Force on Colorectal Cancer (USMSTF 2022), the European Hereditary Tumour Group (EHTG 2021), the American Gastroenterological Association (AGA ...
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Screening and diagnosis

Indications for testing: as per USMSTF 2022 guidelines, evaluate for PJS in patients with characteristic mucocutaneous pigmentation and a family history of PJS.
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Diagnostic investigations

Genetic testing: as per USMSTF 2022 guidelines, obtain genetic testing in patients with any of the following:
≥ 2 histologically confirmed Peutz-Jeghers polyps
any number of Peutz-Jeghers polyps in the presence of a family history of PJS in a first-degree relative
characteristic mucocutaneous pigmentation in the presence of a family history of PJS
any number of Peutz-Jeghers polyps in the presence of characteristic mucocutaneous pigmentation.
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  • Screening for HHT

Diagnostic procedures

Baseline upper and lower gastrointestinal endoscopy: as per USMSTF 2022 guidelines, consider performing a baseline upper and lower gastrointestinal endoscopy between the ages of 8 and 10 years, at the time of capsule placement for small bowel surveillance or when polyps are identified on MR enterography.
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  • Baseline small bowel evaluation

Surgical interventions

Indications for polypectomy: as per ESGE 2023 guidelines, perform device-assisted enteroscopy with polypectomy in patients with large (> 15 mm) or symptomatic polyps discovered on imaging or during small bowel capsule endoscopy.
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  • Indications for colectomy

  • Management of intussusception

Specific circumstances

Pediatric patients, clinical assessment
As per ESPGHAN 2019 guidelines:
Do not diagnose PJS solely based on the presence of lip and mucosal freckling. Refer patients with lip and mucosal freckling suggestive of PJS to a geneticist for diagnostic genetic testing.
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Assess male patients with PJS for signs of large-cell calcifying Sertoli cell tumors of the testes, including gynecomastia. Refer patients with large-cell calcifying Sertoli cell tumors to a pediatric endocrinologist.
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  • Pediatric patients (genetic testing)

  • Pediatric patients (upper and lower gastrointestinal evaluation)

  • Pediatric patients (screening for anemia)

  • Pediatric patients (pharmacotherapy)

  • Pediatric patients (indications for polypectomy)

  • Pediatric patients (management of intussusception)

  • Pediatric patients (surveillance for malignancy)

Preventative measures

Prophylactic pancreatectomy: as per EHTG 2021 guidelines, do not perform prophylactic pancreatectomy because of its significant morbidity and potential mortality, even in experienced hands.
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  • Prophylactic mastectomy

Follow-up and surveillance

Setting of surveillance: as per ESGE 2019 guidelines, conduct surveillance of patients with hereditary gastrointestinal polyposis syndromes, including PJS, in dedicated units providing monitoring of compliance and endoscopic performance measures.
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  • Surveillance for malignancy, upper and lower gastrointestinal tract

  • Surveillance for malignancy, small bowel

  • Surveillance for malignancy, pancreas

  • Surveillance for malignancy, breast

  • Surveillance for malignancy, gynecological

  • Surveillance for malignancy, testes

  • Surveillance for malignancy, lung