Wilsons Disease

Wilson's Disease (also known as hepatolenticular degeneration) is an inherited disorder of copper metabolism that affects multiple organs including the liver, brain, and eyes. It is caused by a mutation of the ATP7B gene, which causes a buildup of copper in the body. This buildup of copper can lead to severe health problems such as cirrhosis of the liver, cognitive deficits, and eye disorders like Kayser-Fleischer rings. Symptoms often appear before adulthood, typically between ages 6 and 20. Common symptoms can include fatigue, lack of appetite, abdominal pain, jaundice, forgetfulness, speech difficulty, muscle spasms, difficulty controlling hand movement, and abnormal behavior. In later stages, Wilson's Disease may affect the brain, brain stems, and neurological systems, leading to more serious symptoms such as tremors, difficulty swallowing, seizures, and liver failure. Treatment for Wilson's Disease is aimed at reducing copper levels in the body and protecting organs from damage caused by the buildup of copper. Establishing a lifelong, comprehensive treatment plan is important for people with Wilson's Disease, as is regular monitoring of copper levels.