28th February 2025

A 25-year-old post-graduate student presents to the gastroenterology clinic for review

A 25-year-old post-graduate student presents to the gastroenterology clinic for review. Six months ago he presented to the emergency department with abdominal pain and vomiting, which was treated as acute gastroenteritis, and his symptoms resolved after a few days.

Two weeks ago, he presented with gastrointestinal bleeding and received 2 units of red cells. Endoscopy at the time showed hamartomatous polyps in the small bowel which the MDT decided to monitor.

He smokes 5 cigarettes per day and drinks alcohol only occasionally. His father died at the age of 65 from colorectal cancer and his older sister has recently been diagnosed with bowel polyps.

On examination he looks well in himself. You note some hyperpigmented patches on the lips and palms but the patient confirms these have been present since he was a child. Gastrointestinal and other systemic examinations are unremarkable.

His blood results are below:

What is the most likely diagnosis?

Select the SINGLE most appropriate option from the list below. Select ONE option only.