How is hereditary hemochromatosis diagnosed?

• A. Liver biopsy
• B. Serum iron studies and genetic testing
• C. Autoantibodies
• D. Serum copper levels

Answer: (B)

Diagnosing hereditary hemochromatosis hinges on showing iron overload and confirming a genetic mutation. Start with serum iron studies, especially transferrin saturation, which rises with iron overload; ferritin is also checked to gauge iron stores. When the pattern suggests excess iron, genetic testing for HFE mutations is done to confirm the diagnosis. Liver biopsy isn’t required for diagnosis and is reserved for assessing liver damage if needed. Autoantibodies and serum copper target other diseases (autoimmune hepatitis and Wilson disease, respectively) and aren’t used to diagnose HH.