What is Wilson's disease?

excessive copper deposition in the tissues

What is the common presentation of Wilson's disease?

• onset of symptoms is usually between 10 - 25 years
• Children usually present with liver disease
• young adults is often neurological disease

What is the inheritance pattern of Wilson's disease?

autosomal recessive

What are the main clinical features of Wilson's disease?

• liver: hepatitis, cirrhosis
• neurological:
  • basal ganglia degeneration: in the brain, most copper is deposited in the basal ganglia, particularly in the putamen and globus pallidus
  • speech, behavioural and psychiatric problems are often the first manifestations
  • also: asterixis, chorea, dementia, parkinsonism
• Kayser-Fleischer rings (green-brown rings in the periphery of the iris)
  • due to copper accumulation in Descemet membrane
• renal tubular acidosis (esp. Fanconi syndrome)
• haemolysis
• blue nails

What are the investigations findings in Wilson's disease?

• reduced serum caeruloplasmin
• reduced total serum copper (counter-intuitive, but 95% of plasma copper is carried by ceruloplasmin)
  • free (non-ceruloplasmin-bound) serum copper is increased
• increased 24hr urinary copper excretion

How is Wilson's disease diagnosed?

confirmed by genetic analysis of the ATP7B gene

What is the management of Wilson's disease?

penicillamine (chelates copper)

What are the main causes of Wilson's disease?

caused by a defect in the ATP7B gene located on chromosome 13

What is the pathophysiology of Wilson's disease?

increased copper absorption from the small intestine and decreased hepatic copper excretion