Gastroenterology
Case 39: A Man with No Symptoms Whose Brother Has Haemochromatosis
CASE
A 48‐year‐old man is referred to the clinic. He is of Irish descent. His elder brother has emigrated to Australia and has recently been identified as having haemochromatosis. The patient has no symptoms and is on no medications. He has no significant past medical history. His father died of heart disease in his 70s. His mother is alive, in her late 60s and has arthritis. He has a younger sister who is alive and well.
Examination is unremarkable.
Blood tests showed:
Hb 15.2 g/dL WCC 4.2× 109/L Platelets 420 × 109/L Na 138 mmol/L K 4.6 mmol/L Urea 4.5 mmol/L Creatinine 100 µmol/L Albumin 42 g/L Bilirubin 12 µmol/L ALP 110 U/L ALT 25 U/L Fe 42 µ Ferritin 570 ng/mL
QUESTION 1
Your score this session: 0 of 0
The patient has heard about haemochromatosis from his brother and from having read about the condition on the internet. From the evidence presented to you, you can say that: