31st December 2024

Peutz-Jeghers syndrome

This is an autosomal dominant condition characterised by numerous hamartomatous polyps in the gastrointestinal tract. Malignant transformation of the polyps is rare, however around half of patients with this condition will have other gastrointestinal tract cancers (including colorectal). Peutz-Jeghers syndrome is associated with mutations in the LKB1 or STK11 genes.

Clinical features include pigmented lesions on lips, oral mucosa, face, palms and soles. Small bowel obstruction, often due to intussusception, is a common finding. Intestinal polyps can present with vomiting and abdominal pain. Symptoms of ileus, gastrointestinal bleeding, and secondary anaemia may occur as complications from the polyps.

Management is usually conservative, addressing any complications that arise.