Wilson Disease: Causes, Diagnosis, Treatment Options, and Future Directions

Wilson Disease is a rare metabolic disorder with genetic origins. It causes accumulation of copper in various organs, especially the liver and brain. Symptoms include liver dysfunction, neurological disorders, and psychiatric disorders. The genetic basis of WD is mutation in the ATP7B gene. This leads to impaired excretion of copper from the body. Early diagnosis is needed; therefore, the risk of irreversible organ damage is minimized. The symptoms often overlap with other disorders, making it hard to identify. An evaluation clinically, blood tests and genetic screening are commonly used for the diagnosis, subsequently treatment is provided with chelating agents such as penicillamine and trientine that contribute to removing copper. Zinc salts may be added at some times to reduce copper absorption. Liver transplantation may be done in severe liver damage. Throughout the article, the topics discussed are the cause, clinical features, diagnostic methods, therapy and future direction of management.