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28th February 2025
A 32-year-old man presents to the gastroenterology clinic for review. Three months ago he presented to the emergency department
A 32-year-old man presents to the gastroenterology clinic for review. Three months ago he presented to the emergency department with lower gastrointestinal bleeding, was transfused with red cells and discharged home with an outpatient colonoscopy appointment scheduled.
He smokes 10 cigarettes per day and consumes around 14 units of alcohol per week. He works as a mental health support worker. His father died at the age of 60 from colorectal cancer and his older brother has recently been told he has some bowel polyps.
On examination in the clinic he looks well in himself. You note some hyperpigmented patches on the lips and soles of the feet, which he confirms are “birthmarks” also present in most members of his family. Gastrointestinal and other systemic examinations are unremarkable.
His blood results today:
| Hb | 120 g/L | (135 – 180) |
| Platelets | 155 x 10⁹/L | (150 – 400) |
| WBC | 11.1 x 10⁹/L | (4.0 – 11.0) |
| Na+ | 135 mmol/L | (135 – 145) |
| K+ | 5.0 mmol/L | (3.5 – 5.0) |
| Urea | 5.1 mmol/L | (2.0 – 7.0) |
| Creatinine | 100 µmol/L | (55 – 120) |
Colonoscopy shows hamartomatous polyps in the small bowel.
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