Overview
Wilson Disease at a Glance
A young adult with new tremor, personality change, and unexplained transaminase elevation may have one unifying disorder rather than separate hepatic and psychiatric diagnoses.
A young adult with new tremor, personality change, and unexplained transaminase elevation may have one unifying disorder rather than separate hepatic and psychiatric diagnoses. Wilson disease results from ATP7B dysfunction and allows copper to accumulate in tissues, producing disease that may be hepatic, neurologic, psychiatric, ocular, renal, or haematologic. The clinical stakes range from treatable chronic disease to acute liver failure. The NP's task is to combine these clues, confirm the diagnosis with a composite work-up, and support uninterrupted copper-lowering treatment. A normal-appearing cornea or a single low ceruloplasmin value does not settle the case.