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Wilson disease (WD) is a rare autosomal recessive inherited disorder of hepatic copper metabolism. Symptoms are quite varied, with liver disease and neuropsychiatric disturbances being the most common. Diagnosis can be difficult, because no single test is pathognomonic for WD. WD is most commonly seen in children and young adults and rarely manifests in people older than 40. In a multinational cohort study that started in 1995, researchers evaluated the prevalence of late-onset WD and its diagnostic features.
A total of 1223 patients with WD (1053 index cases; 170 siblings) were enrolled. Participants underwent laboratory testing and filled out detailed background questionnaires. WD was confirmed based on an international scoring system, and…