Small bowel endoscopy and Peutz-Jeghers syndrome

Area of Science:

• Gastroenterology and Genetics

Background:

• Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominant disorder.
• Characterized by gastrointestinal hamartomas, primarily in the small bowel, leading to complications like intussusception, abdominal pain, anemia, and increased risk of small bowel cancer.

Purpose of the Study:

• To review and compare diagnostic techniques for small bowel surveillance in PJS patients.
• To discuss advanced endoscopic methods for both diagnosis and therapy in PJS surveillance.
• To recommend a step-up approach for applying these techniques.

Main Methods:

• Review of radiologic and endoscopic imaging modalities for small bowel examination.
• Description of advanced endoscopy techniques with diagnostic and therapeutic capabilities.
• Analysis of current literature on PJS surveillance strategies.

Main Results:

• Various imaging modalities possess diagnostic value for PJS small bowel assessment.
• Advanced endoscopy offers combined diagnostic and therapeutic potential for surveillance.
• A structured, step-up approach to surveillance is proposed.

Conclusions:

• Optimal small bowel surveillance strategy for PJS patients is crucial due to cancer risk.
• A combination of established and advanced endoscopic techniques can be effectively applied.
• A step-up approach guides the selection and application of surveillance modalities.