Wilson Disease
Basics
Description
- 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
Epidemiology
Incidence
~2 to 4 cases per 100,000 live births
Prevalence
- 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.
Genetics
- 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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Citation
Domino, Frank J., et al., editors. "Wilson Disease." 5-Minute Clinical Consult, 33rd ed., Wolters Kluwer, 2025. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816770/all/Wilson_Disease.
Wilson Disease. In: Domino FJF, Baldor RAR, Golding JJ, et al, eds. 5-Minute Clinical Consult. Wolters Kluwer; 2025. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816770/all/Wilson_Disease. Accessed November 23, 2024.
Wilson Disease. (2025). In Domino, F. J., Baldor, R. A., Golding, J., & Stephens, M. B. (Eds.), 5-Minute Clinical Consult (33rd ed.). Wolters Kluwer. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816770/all/Wilson_Disease
Wilson Disease [Internet]. In: Domino FJF, Baldor RAR, Golding JJ, Stephens MBM, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2025. [cited 2024 November 23]. Available from: https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816770/all/Wilson_Disease.
* Article titles in AMA citation format should be in sentence-case
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T1 - Wilson Disease
ID - 816770
ED - Domino,Frank J,
ED - Baldor,Robert A,
ED - Golding,Jeremy,
ED - Stephens,Mark B,
BT - 5-Minute Clinical Consult, Updating
UR - https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816770/all/Wilson_Disease
PB - Wolters Kluwer
ET - 33
DB - Medicine Central
DP - Unbound Medicine
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