A 50-year-old man presents with elevated liver enzymes, bronze skin pigmentation, joint pain in MCPs, and reduced libido. Serum transferrin saturation is 72%, ferritin 2800 µg/L. HFE gene testing confirms C282Y homozygosity. Which complication is the leading cause of death in treated hereditary haemochromatosis?

• A Hepatocellular carcinoma ✓
• B Liver failure
• C Cardiac failure from cardiomyopathy
• D Diabetes mellitus complications

Explanation

Hepatocellular carcinoma (HCC) is the leading cause of death in treated hereditary haemochromatosis, occurring in patients with established cirrhosis even after effective iron depletion by phlebotomy. The risk of HCC is increased 200-fold in cirrhotic haemochromatosis patients. Phlebotomy corrects iron overload and reduces cardiac and liver failure risk, but does not eliminate HCC risk once cirrhosis is established. This is why 6-monthly HCC surveillance (AFP + liver ultrasound) is mandatory in all cirrhotic haemochromatosis patients.

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

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.