Wilson Disease (Hepatolenticular Degeneration)

Wilson disease is an autosomal recessive disorder of copper excretion caused by pathogenic variants in ATP7B. Its prevalence is roughly 1 in 30,000, but it is disproportionately important for the entry-level nurse practitioner because it is a treatable cause of chronic hepatitis, cirrhosis, acute liver failure, movement disorders and psychiatric illness in children, adolescents and young adults. Missed diagnosis leads to irreversible neurological injury or death; timely diagnosis and lifelong therapy give most people a normal life expectancy. The NP's responsibilities are to recognize who needs testing, order and interpret the initial work-up, refer to hepatology (and neurology where relevant), co-manage long-term therapy in primary care, monitor for toxicity and nonadherence, and organize screening of relatives.