Wilson's Disease

Defect in copper transporting protein

Aetiology

  • Monogenetic autosomal recessive mutation in the ATP7B gene (Wilson’s gene) which encodes for a copper transporting protein

Pathophysiology

  • Defective copper transport protein results in loss of copper regulation causing massive tissue deposition of copper, especially in the liver and basal ganglia
  • Causes chronic hepatitis and neurological degeneration

Clinical presentation

  • Children - liver failure, jaundice
  • Young adults - CNS signs e.g. axia, tremor, dysarthria
  • Eyes - Keyser-Fleischer rings

Investigations

  • Kayser-Fleischer rings on eye examination
  • 24hr urinary copper excretion - high
  • Serum copper and caeuloplasmin levels - low
  • Liver biopsy if other tests inconclusive

Management

  • Copper chelation drugs