A 47-year-old man with dilated cardiomyopathy (LVEF 30%) also has bronzed skin, new-onset diabetes mellitus, and loss of libido. Ferritin is 2400 ng/mL and transferrin saturation is 82%. Cardiac MRI shows reduced T2* signal in the myocardium. Which intervention offers the greatest chance of reversing his cardiac dysfunction if started early?

• A High-dose vitamin C supplementation
• B Deferasirox chelation as first-line therapy because he is anaemic
• C Serial therapeutic phlebotomy ✓
• D Left ventricular assist device implantation

Explanation

Hereditary haemochromatosis (usually HFE A282Y homozygosity) causes a dilated cardiomyopathy through iron-mediated myocyte injury. In the non-anaemic patient, serial phlebotomy is first-line and can reverse both the cardiomyopathy and the endocrinopathies if begun before irreversible damage. Iron chelators like deferasirox are reserved for patients who cannot tolerate phlebotomy, such as those with anaemia or thalassemia. Vitamin A increases iron absorption and is avoided. LVAD is a bridge option only after iron removal fails.

Reference: Harrison's Principles of Internal Medicine, 21st ed.

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Written and medically reviewed by the StethoPrep medical team.