Gastro Medicine - Peutz-Jeghers syndrome

Question 1

Peutz-Jeghers syndrome?

Answer 1

• Peutz-Jeghers syndrome is an autosomal dominant condition characterised by numerous hamartomatous polyps in the gastrointestinal tract.
• It is also associated with pigmented freckles on the lips, face, palms and soles.
• Around 50% of patients will have died from a gastrointestinal tract cancer by the age of 60 years.

Question 2

Genetics?

Answer 2

• autosomal dominant
• responsible gene encodes serine threonine kinase LKB1 or STK11

Question 3

Features?

Answer 3

• hamartomatous polyps in GI tract (mainly small bowel)
• pigmented lesions on lips, oral mucosa, face, palms and soles
• intestinal obstruction e.g. intussusception
• gastrointestinal bleeding