Peutz-Jeghers syndrome is an inherited condition, usually from an STK11 gene variant, that causes hamartomatous polyps mainly in the small bowel and dark freckles on the lips and in the mouth. The polyps can bleed or cause intussusception, and patients have a higher lifetime risk of several cancers.
Key symptoms
- Recurrent crampy abdominal pain
- Blood in the stool or tiredness from anemia
- Episodes of bowel obstruction, often from intussusception
- Family history of polyps or early cancers
What you find on exam
- Dark blue-brown freckles on the lips, inside the mouth, hands or feet
- Pallor from chronic blood loss
- Abdominal distension or a mass during intussusception
- Family pedigree of affected relatives
Tests
- Blood count and iron studies for anemia
- Upper endoscopy and colonoscopy
- Capsule endoscopy or MR enterography of the small bowel
- Genetic testing for an STK11 variant
Treatment basics
- Remove large small bowel polyps, often by balloon enteroscopy
- Surgery for intussusception or polyps that cannot be removed by endoscopy
- Lifelong cancer surveillance: bowel, pancreas, breast and gonads
- Genetic counseling and testing of family members
Red flags
- Sudden severe abdominal pain with vomiting (intussusception)
- Heavy bleeding or a rapidly falling hemoglobin
- Weight loss or a new mass suggesting cancer
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Sources: NCCPA PANCE Content Blueprint; NBOME COMLEX-USA clinical presentations; AAMC Core Entrustable Professional Activities (Core EPAs). Written by Making Synapses. Making Synapses is not affiliated with these organizations.