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Wilson Disease

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Signs and Symptoms

People with Wilson disease who have liver involvement typically develop symptoms starting in early childhood; those with brain involvement may have neurologic and psychiatric symptoms beginning in their teens or early twenties, but the age range for both can vary from about three years old to more than fifty.

Deposits of copper in the liver can lead to acute, chronic, and progressive hepatitis and cirrhosis and cause signs and symptoms such as:

  • Yellowing of the skin and whites of the eyes (jaundice)
  • Fatigue
  • Abdominal pain
  • Nausea
  • Fluid accumulation in the abdomen (ascites)

People whose brain is affected may have a range of physical symptoms, including:

  • Muscle contractions that persist and cause limb twitching and repetitive movements (dystonia)
  • Siff face muscles
  • Tremors
  • Abnormal eye movements
  • Altered gait
  • Difficulty walking, speaking, and swallowing

They may also experience behavioral changes such as depression, paranoia, impulsiveness, obsessive behavior, aggression, and a shortened attention span.

About 50% of those with liver disease and 90% of those with brain involvement will have Kayser-Fleischer rings, deposits of copper in a ring around the cornea that can be seen with an eye exam called a slit lamp examination.

Some with Wilson disease may also experience anemia, easy bruising, joint pain, and/or kidney dysfunction.

Left untreated, Wilson disease tends to become progressively worse and is eventually fatal. With early detection and treatment, most of those affected can live relatively normal lives. Liver and neurologic damage that occurs prior to treatment may improve, but it is often permanent.

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