Wilson

Wilson's disease is a rare inherited disorder that causes copper to accumulate in your liver, brain and other vital organs. Most people with Wilson's disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.

Symptoms

Symptoms of Wilson's disease vary depending on the parts of the body affected by copper accumulation. They can include liver disease, neurological problems, psychiatric symptoms, and Kayser-Fleischer rings in the eyes.

Liver disease

Liver disease is often the first sign of Wilson's disease. Symptoms can include fatigue, lack of appetite, abdominal pain, and jaundice.

Neurological problems

Neurological problems can occur in Wilson's disease, often in people who have not been diagnosed and treated early. Symptoms can include difficulty speaking, swallowing, and performing physical movements, as well as uncontrolled movements and muscle stiffness.

Psychiatric symptoms

Psychiatric symptoms can also occur in Wilson's disease, often before any physical symptoms appear. These can include changes in personality, depression, irritability, and in some cases, symptoms of psychosis.

Kayser-Fleischer rings

Kayser-Fleischer rings are a distinctive sign of Wilson's disease. They are rings of copper that can be seen around the cornea of the eye.

Causes

Wilson's disease is caused by a mutation in the ATP7B gene. This gene provides instructions for making a protein that is important for regulating copper in the body. When the ATP7B gene is mutated, copper can build up in the liver and other organs.

Diagnosis

Diagnosis of Wilson's disease can be challenging because its symptoms are often similar to those of other liver diseases. However, tests that measure the amount of copper in the liver, blood, and urine can help confirm a diagnosis. Genetic testing can also be used.

Treatment

Treatment for Wilson's disease is lifelong and aims to reduce the amount of copper in the body. This can be achieved through medications that remove excess copper from the body or prevent the absorption of copper from the diet.

Wilson Resources
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