Wilson’s disease. Hemochromatosis

1. Big picture

Wilson’s disease and hemochromatosis are inherited metal-storage diseases that can silently damage the liver and then present as chronic hepatitis, cirrhosis, acute liver failure, endocrine disease, cardiac disease, or neurological disease.

The exam logic is simple:

Disease	Stored metal	Gene/mechanism	Typical clue	Key diagnostic tests	Key treatment
Wilson’s disease	Copper	ATP7B defect → impaired biliary copper excretion	Young patient with liver disease + neuropsychiatric signs ± Kayser-Fleischer rings	Ceruloplasmin, 24-hour urinary copper, slit-lamp exam, hepatic copper/genetics	Chelation: penicillamine or trientine; zinc; liver transplant if acute liver failure
Hemochromatosis	Iron	Usually HFE C282Y mutation → low hepcidin effect → increased intestinal iron absorption	Middle-aged man with liver disease, diabetes, bronze skin, arthropathy	Transferrin saturation, ferritin, HFE genotyping, MRI liver iron	Repeated phlebotomy; chelation if phlebotomy impossible

Wilson = young + copper + liver/neuro/psychiatric. Hemochromatosis = iron overload + cirrhosis/diabetes/bronzing/cardiomyopathy.

1. Big picture

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