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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 of 1 in 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 are 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.
- Excess copper is excreted into bile.
- Copper in serum is bound to amino acids and albumin as 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 (causing 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 seen in 10–40% of patients.
- Autosomal recessive inheritance pattern
- Heterozygous carrier rate is approximately 1:100 to 200.
- Consanguinity greatly increases risk of genetic mutation (1).
- First-degree relatives with Wilson disease
- 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).