Gastroenterology and hepatology
Wilson disease
ATP7B copper overload in a young person with liver disease, a movement disorder or psychiatric change; caeruloplasmin, 24-hour urine copper and the Leipzig score; chelation versus zinc (EASL-ERN 2025); acute liver failure, pregnancy and family screening.
Tier 2Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- Autosomal recessive ATP7B mutation stops copper being excreted into bile, so copper builds up in the liver, then the brain, cornea and kidneys.
- Prevalence about 1 in 30,000. Presents mainly between 5 and 40, but up to the 70s has been described.
- Think of it in any young person with unexplained liver disease, a movement disorder or psychiatric change.
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Sources
- EASL-ERN Clinical Practice Guidelines on Wilson's disease. J Hepatol 2025;82:690-728European Association for the Study of the Liver and European Reference Network on Rare Liver Diseases (Journal of Hepatology), 2025
- Schilsky ML 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 2025;82:E41-E90 (online 2022)American Association for the Study of Liver Diseases, 2022
- Trientine: PBAC Public Summary Documents (2021 to 2023) and PBS medicine statusAU/NZPharmaceutical Benefits Scheme, Australian Government, 2023
- Trientine dihydrochloride (PBS Schedule item 13124R, Wilson disease with penicillamine intolerance, Authority Required)AU/NZPharmaceutical Benefits Scheme, Checked November 2026
- Korman JD et al. Screening for Wilson disease in acute liver failure: a comparison of currently available diagnostic tests. Hepatology 2008;48:1167-74Hepatology, 2008
- Ferenci P et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-42Liver International (8th International Meeting on Wilson Disease, Leipzig), 2003
- Dhawan A et al. Wilson's disease in children: 37-year experience and revised King's score for liver transplantation. Liver Transpl 2005;11:441-8Liver Transplantation, 2005
- Last updated
- 14 November 2026
What changed
- 14 November 2026 Personal emails, About story and Australian-style copy