Wilson Disease

Wilson Disease is a rare inherited disorder that causes too much copper to build up in the body, especially in the liver and brain. Normally, copper is processed by the liver and removed through bile, but in this condition, the body cannot get rid of copper properly. This leads to copper accumulating and damaging important organs, which can cause problems like liver disease, movement difficulties, and psychiatric symptoms. The buildup of copper can affect how the body functions and may cause serious health issues if untreated. Early diagnosis is important to manage symptoms and prevent long-term damage.

Wilson Disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, leading to defective copper-transporting ATPase function. This results in impaired biliary copper excretion and toxic accumulation of copper primarily in the liver, brain, and other tissues. The excess copper causes hepatocellular injury, leading to chronic liver disease, and neurological symptoms such as dystonia, tremor, and psychiatric disturbances. The disease typically presents in adolescence or early adulthood but can vary widely. Key pathological features include Kayser-Fleischer rings in the cornea and low serum ceruloplasmin levels. Without treatment, copper accumulation leads to progressive organ damage and potentially fatal outcomes.