Expansion
Wilson accumulates copper; haemochromatosis accumulates iron
Expansion
| Wilson disease | Hereditary haemochromatosis | |
|---|---|---|
| Metal | Copper | Iron |
| Gene | ATP7B | HFE (C282Y) |
| Inheritance | Autosomal recessive | Autosomal recessive |
| Age at presentation | Under 40 | 40 to 60; later in women |
| Liver | Hepatitis, cirrhosis, fulminant failure | Cirrhosis, hepatocellular carcinoma |
| Other organs | Basal ganglia (tremor, dystonia, parkinsonism), psychiatric change, Kayser-Fleischer rings, haemolysis, renal tubular defects | Joints (second and third MCP), pancreas (bronze diabetes), heart, pituitary, skin |
| Key tests | Low caeruloplasmin, high urinary copper, slit lamp | High ferritin and transferrin saturation, genetic testing |
| Treatment | Penicillamine or trientine, zinc | Venesection |
The mechanism differs: Wilson is a failure of biliary copper excretion, while haemochromatosis is unregulated intestinal iron absorption from defective hepcidin signalling.
Women present later in haemochromatosis because menstruation provides ongoing iron loss, an example of a physiological process modifying a genetic disease.