Wilson's disease is an autosomal recessive disorder characterised by excessive copper deposition in the tissues.


  • Incidence: 0.10 cases per 100,000 person-years
  • Peak incidence: 20-30 years
  • Sex ratio: 1:1
Condition Relative
Alcoholic liver disease200.00
Wilson's disease1
<1 1-5 6+ 16+ 30+ 40+ 50+ 60+ 70+ 80+


Metabolic abnormalities include increased copper absorption from the small intestine and decreased hepatic copper excretion. Wilson's disease is caused by a defect in the ATP7B gene located on chromosome 13.

Clinical features

The onset of symptoms is usually between 10 - 25 years. Children usually present with liver disease whereas the first sign of disease in young adults is often neurological disease

Features result from excessive copper deposition in the tissues, especially the brain, liver and cornea:
  • liver: hepatitis, cirrhosis
  • neurological: basal ganglia degeneration, speech, behavioural and psychiatric problems are often the first manifestations. Also: asterixis, chorea, parkinsonism, dementia
  • Kayser-Fleischer rings
  • renal tubular acidosis (esp. Fanconi syndrome)
  • haemolysis
  • blue nails


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


  • penicillamine (chelates copper) has been the traditional first-line treatment
  • trientine hydrochloride is an alternative chelating agent which may become first-line treatment in the future
  • tetrathiomolybdate is a newer agent that is currently under investigation