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Wilson disease

Last updated: October 6, 2020

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Wilson disease (hepatolenticular degeneration) is an autosomal recessive metabolic disorder in which impaired copper excretion causes copper to accumulate in the body. In its initial stages, Wilson disease leads to copper deposits in the liver. As the disease progresses, copper also accumulates in other organs, most importantly in the brain and cornea. The disease often goes undiagnosed until the typical combination of hepatitis (or even cirrhosis), dementia, and parkinsonism raises clinical suspicion. Kayser-Fleischer rings, brownish copper deposits visible around the iris, are a further indication of Wilson disease. Low serum ceruloplasmin (copper transport protein) concentrations and increased urinary copper excretion confirm the diagnosis. Genetic testing or liver biopsies with quantitative copper assays can provide further information if the diagnosis is indeterminate. Primary management consists of maintaining a low-copper diet and administration of a chelating agent such as penicillamine. Patients with Wilson disease have a good prognosis if the condition is diagnosed and treated early.

  • Age of onset: 5–35 years ; (mean age 12–23 years) [1][2]
  • Prevalence: ∼ 1/30,000 [3]

Epidemiological data refers to the US, unless otherwise specified.

Wilson disease should be suspected in cases of nonspecific, noninfectious liver disease and nonspecific extrapyramidal movement disorders appearing before the age of 35!

The differential diagnoses listed here are not exhaustive.

General management

Medical therapy [2][6]

Treatment with a chelating agent should be titrated gradually, as mobilizing the copper stored in tissues too rapidly may exacerbate neurological symptoms!

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  2. European Association for Study of Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol. 2012; 56 (3): p.671-685. doi: 10.1016/j.jhep.2011.11.007 . | Open in Read by QxMD
  3. Amit Kulkarni, Vijay Kumar Sharma. Wilson's Disease. Elsevier ; 2017 : p. 424-433
  4. Dong Q-Y, Wu Z-Y. Advance in the pathogenesis and treatment of Wilson disease. Transl Neurodegener. 2012; 1 : p.23. doi: 10.1186/2047-9158-1-23 . | Open in Read by QxMD
  5. Weiss KH, Zischka H. Copper Directly Affects Intestinal Lipid Turnover. Gastroenterology. 2018; 154 (1): p.15-17. doi: 10.1053/j.gastro.2017.11.016 . | Open in Read by QxMD
  6. Mulligan C, Bronstein JM. Wilson Disease. Neurol Clin. 2020; 38 (2): p.417-432. doi: 10.1016/j.ncl.2020.01.005 . | Open in Read by QxMD
  7. Lorincz - Neurologic Wilson's disease. Neurologic Wilson's disease. Ann N Y Acad Sci. 2009; 1184 : p.173-184. doi: 10.1111/j.1749-6632.2009.05109.x . | Open in Read by QxMD
  8. Ferenci P, Steindl-Munda P, Vogel W et al. Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease. Clin Gastroenterol Hepatol. 2005; 3 (8): p.811-818. doi: 10.1016/S1542-3565(05)00181-3 . | Open in Read by QxMD
  9. Roberts EA, Schilsky ML. Diagnosis and Treatment of Wilson Disease: An Update. Hepatology. 2008; 47 (6): p.2089-2111. doi: 10.1002/hep.22261 . | Open in Read by QxMD
  10. Schilsky ML. Wilson disease: Clinical manifestations, diagnosis, and natural history. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/wilson-disease-clinical-manifestations-diagnosis-and-natural-history?source=search_result&search=wilson%27s%20disease&selectedTitle=1~150#H57950462.Last updated: November 10, 2015. Accessed: January 6, 2017.
  11. Schilsky ML. Wilson disease: Epidemiology and pathogenesis. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/wilson-disease-epidemiology-and-pathogenesis?source=see_link.Last updated: January 13, 2015. Accessed: January 6, 2017.
  12. Schilsky ML. Wilson disease: Diagnostic tests. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/wilson-disease-diagnostic-tests?source=search_result&search=wilson%20disease&selectedTitle=2~150#H19.Last updated: December 1, 2015. Accessed: January 6, 2017.
  13. Schilsky ML. Wilson disease: Treatment and prognosis. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/wilson-disease-treatment-and-prognosis#H26.Last updated: November 29, 2016. Accessed: January 6, 2017.