A 34-year-old man presents with breathlessness, bronze skin pigmentation, diabetes mellitus, and arthropathy. Echo shows a dilated cardiomyopathy with LVEF 35%. Serum ferritin is markedly elevated with transferrin saturation above 60%. Which intervention offers the best chance of reversing his cardiac dysfunction?

• A Iron supplementation guided by ferritin levels
• B Permanent pacemaker implantation
• C High-dose loop diuretics alone
• D Serial therapeutic phlebotomy ✓

Explanation

Hereditary hemochromatosis causes iron deposition in myocardium leading to a dilated cardiomyopathy that can improve substantially with early iron removal. Venesection is first line in hereditary hemochromatosis, with chelation reserved when phlebotomy is not tolerated. Iron supplementation worsens iron loading, pacing treats only the conduction complications, and diuresis addresses congestion without altering the underlying process.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.