What is Wilson disease?
Wilson disease is a rare, inherited, metabolic disease in which excess copper builds up in the body, primarily affecting the brain and liver and leading to hepatic, neurologic, and psychiatric manifestations that progress over time.1-3
Wilson disease is caused by inherited autosomal recessive genetic variants in the ATP7B gene, which encodes a copper transporter responsible for removing excess copper from the liver into the bile duct.1-3
This website is a resource for healthcare professionals, providing educational materials and information delivered by experienced healthcare professionals across a variety of specialties for those interested in learning more about Wilson disease.
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Do you Think Wilson?
Can you recognize the broad range of Wilson disease manifestations in adult and pediatric patients? Are you able to differentiate Wilson disease from other, more common hepatic, neurologic, psychiatric, and ophthalmologic disorders?
Listen to healthcare professionals with experience in the field sharing knowledge on key topics in Wilson disease in a series of interactive e-learning modules.
e-learning modules
Listen to Valentina Medici from University of California Davis, California, USA, sharing knowledge on hepatic manifestations in people with Wilson disease, and test your knowledge of hepatic manifestations in an interactive e-learning module.
REFERENCES
- 1. Socha P, Janczyk W, Dhawan A et al. Wilson's disease in children: a position paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2018; 66: 334-344.
- 2. Schilsky ML, Roberts EA, Bronstein JM 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 2022; doi: 10.1002/hep.32801.
- 3. European Association for the Study of the Liver. EASL Clinical Practice Guidelines: Wilson's disease. J Hepatol 2012; 56: 671-685.