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What is Wilson disease?

Wilson disease is a rare, treatable inherited condition in which the body cannot remove excess copper, allowing it to build up — most often in the liver and brain — and cause damage over years if untreated.

Written by the Living with Wilson team · Last reviewed 2026-04-26

Wilson disease is a rare inherited condition in which the body’s normal pathway for removing excess copper does not work properly.1 Copper is an essential trace mineral that we get from food in tiny amounts every day. In a healthy person, the liver packages excess copper into bile and excretes it. In a person with Wilson disease, that excretion pathway is broken, and copper slowly accumulates — first in the liver, and over time in the brain, eyes, kidneys, and other organs.2

The disease is caused by mutations in a gene called ATP7B, which codes for a copper-transporting protein on the membrane of cells in the liver and elsewhere. More than 900 disease-causing variants in ATP7B have been described.3 Wilson disease is autosomal recessive: a person has the disease only if they inherit one mutated copy from each parent.1 Carriers — people with one mutated copy and one normal copy — are healthy and do not need treatment.

The classical figure given for the prevalence of Wilson disease is about 1 in 30,000 people worldwide.2 However, a 2013 genetic study of the United Kingdom population found pathogenic ATP7B variants at a much higher frequency than expected, suggesting the true prevalence may be closer to 1 in 7,000 — meaning many cases are likely missed because the diagnosis is never considered.4 Prevalence varies by region and is higher in populations with frequent consanguinity, such as parts of Sardinia.5

The most important thing to know about Wilson disease is that it is treatable. With early diagnosis and consistent lifelong therapy — chelation drugs that pull copper out of the body, or zinc that blocks new copper absorption — most patients live a normal life span, and most early damage to the liver can be reversed or stabilized.12

Because the disease is rare and its symptoms are highly variable — affecting liver, neurological, psychiatric, hematologic, and gynecological systems — it is often misdiagnosed for years before the right tests are ordered. The mean age at diagnosis is in the late teens to early twenties, but Wilson disease has been diagnosed in children as young as three and in adults in their seventies.6 If you or a family member has unexplained liver problems or unexplained movement-and-mood problems before age 40, ask a doctor about Wilson disease specifically.1

References

  1. Schilsky, Michael L., Eve A. Roberts, Jeff M. Bronstein, Anil Dhawan, Carla A. Friedman, Anna L. Czlonkowska, Aftab Ala, et al. “A Multidisciplinary Approach to the Diagnosis and Management of Wilson Disease: 2022 Practice Guidance on Wilson Disease from the American Association for the Study of Liver Diseases.” Hepatology 77, no. 4 (2023): 1428–1455. https://doi.org/10.1002/hep.32801. ↩↩↩↩

  2. Członkowska, Anna, Tomasz Litwin, Petr Dusek, Peter Ferenci, Svetlana Lutsenko, Valentina Medici, Janusz K. Rybakowski, Karl Heinz Weiss, and Michael L. Schilsky. “Wilson Disease.” Nature Reviews Disease Primers 4, no. 1 (2018): 21. https://doi.org/10.1038/s41572-018-0024-5. ↩↩↩

  3. European Association for the Study of the Liver. “EASL Clinical Practice Guidelines: Wilson’s Disease.” Journal of Hepatology 56, no. 3 (2012): 671–685. https://doi.org/10.1016/j.jhep.2011.11.007. ↩

  4. Coffey, Alison J., Miranda Durkie, Stephen Hague, Karen McLay, Jonathon Emmerson, Catherine Lo, Sara Klaffke, et al. “A Genetic Study of Wilson’s Disease in the United Kingdom.” Brain 136, no. 5 (2013): 1476–1487. https://doi.org/10.1093/brain/awt035. ↩

  5. Gialluisi, Alessandro, Marina Incollu, Caterina Pippucci, Annalisa Lepori, Federica Zoledziewska, Maristella Steri, Francesco Cucca, and Giovanni Romeo. “The Homozygosity Index (HI) Approach Reveals High Allele Frequency for Wilson Disease in the Sardinian Population.” European Journal of Human Genetics 21, no. 11 (2013): 1308–1311. https://doi.org/10.1038/ejhg.2013.43. ↩

  6. Alkhouri, Naim, Regino P. Gonzalez-Peralta, and Valentina Medici. “Wilson Disease: A Summary of the Updated AASLD Practice Guidance.” Hepatology Communications 7, no. 6 (2023): e0150. https://doi.org/10.1097/HC9.0000000000000150. ↩

This is patient education, not medical advice. Always consult your own clinical team about decisions for your care.