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Wilson Disease

Wilson Disease is a topic covered in the 5-Minute Clinical Consult.

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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.

Risk Factors

  • Consanguinity greatly 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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Stephens, Mark B., et al., editors. "Wilson Disease." 5-Minute Clinical Consult, 27th ed., Wolters Kluwer, 2019. Medicine Central, im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816770/all/Wilson_Disease.
Wilson Disease. In: Stephens MB, Golding J, Baldor RA, et al, eds. 5-Minute Clinical Consult. 27th ed. Wolters Kluwer; 2019. https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816770/all/Wilson_Disease. Accessed March 19, 2019.
Wilson Disease. (2019). In Stephens, M. B., Golding, J., Baldor, R. A., & Domino, F. J. (Eds.), 5-Minute Clinical Consult. Available from https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816770/all/Wilson_Disease
Wilson Disease [Internet]. In: Stephens MB, Golding J, Baldor RA, Domino FJ, editors. 5-Minute Clinical Consult. Wolters Kluwer; 2019. [cited 2019 March 19]. 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
TY - ELEC T1 - Wilson Disease ID - 816770 ED - Stephens,Mark B, ED - Golding,Jeremy, ED - Baldor,Robert A, ED - Domino,Frank J, 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 - 27 DB - Medicine Central DP - Unbound Medicine ER -