Wilson’s disease/hepatolenticular degeneration

• Failure of bilary copper excretion resulting in toxic accumulations of copper in the liver and CNS (especially the basal ganglia)
• It is autosomal recessive – the gene is on Chr13 and encodes for a copper transporting ATPase – ATP7B

Clinical feature

• Children generally present with hepatitis, cirrhosis, fulminant liver failure
• Young adults generally present with CNS signs;
  • Tremor
  • Dysarthria
  • Dysphagia
  • Dyskinesia
  • Dystonia
  • Purposeless stereotyped movements (e.g. handclapping)
  • Dementia
  • Parkinsonism
  • Micrographia
  • Ataxia
  • Clumsiness
• Affective features – depression/mania, labile emotions, personality change
• Cognitive/behaviour changes – reduced memory, slow to solve problems, reduced IQ
• Kayser-Fleischer rings – Cu deposits in the iris

Tests

• Reduced serum copper and caeruloplasmin
• Increased 24hr urinary copper excretion
• Liver biopsy – increased copper content
• MRI – basal ganglia degeneration

Management

• Lifelong penecillamine – can suppress BM so warn patient to report and sore throats or bruising they might get
• Liver transplantation
• Screen siblings

Prognosis

• Pre-cirrhotic liver disease is reversible although neurological damage is less so