Wilson Disease

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  • Autosomal recessive condition affecting copper excretion; originally known as progressive lenticular degeneration
  • Leads to progressive liver damage and cirrhosis, commonly associated with neuropsychiatric sequelae from systemic copper deposition


~2 to 4 cases per 100,000 live births

  • Estimated prevalence 1/10,000 to 30,000 worldwide (1)
  • Higher prevalence with consanguinity
  • Equal prevalence between men and women, although women have higher likelihood of developing hepatic failure (approximately 4:1)
  • Men more likely to develop neuropsychiatric disease

Etiology and Pathophysiology

  • Average copper in diet is 2 to 5 mg/day, with recommended intake approximately 0.9 mg/day (2).
  • Copper is normally absorbed in the duodenum and transported to liver with excess copper excreted into bile.
  • Copper in serum is bound to amino acids and albumin because it is toxic in its free form through oxidation.
  • Gene ATP7B encodes a metal-transporting ATPase which excretes copper into bile.
  • Reduced or absent ATPase protein leads to copper accumulation in hepatocytes causing injury, along with impaired ability to incorporate copper into ceruloplasmin (decreased half-life of ceruloplasmin) (2).
  • Systemic deposition is noted with copper in bloodstream.

  • Copper-transporting ATPase is encoded on ATP7B gene located on chromosome 13q.
  • Most common mutation is H1069Q in 10–40% of patients.
  • Autosomal recessive inheritance pattern
  • Heterozygous carrier rate is ~1:100 to 200.

Risk Factors

  • Consanguinity increases risk of genetic mutation (1).
  • First-degree relatives with Wilson disease

General Prevention

  • Screening recommended in first-degree relatives of patients with known Wilson disease
  • Typically conducted around ages 3 to 5 years

Commonly Associated Conditions

No other phenotype is known to be associated with ATP7B mutation at this time (3).

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