Wilson Disease

• Autosomal recessive disease → defective copper transport and subsequent accumulation and deposition of copper in the liver and brain
• Often happens before age of 30

Signs and symptoms

• Liver failure signs (jaundice, hepatomegaly, asterixis) + neurological signs
• Neurological dysfunction (ataxia, tremor, choreiform movements, ridigity)
• Psychiatric abnormalities (psychosis, anxiety, mania, depression)
• Kayser-Fleischer ring (green-to-brown copper deposits in the Descemet membrane)

Investigation

• Slit-lamp exam
• Bloods: ↓ serum ceruloplasmin
• Urine: ↑ 24-hour urinary copper excretion (after penicillamine)
• Liver biopsy

Management

• Penicillamine or trientine (copper chelators)
• Dietary copper restriction (avoid shellfish, liver, legumes)
• Zinc (to increase faecal excretion of copper)