Wilson Disease is clinically characterized by various degrees of liver, neurological and psychiatric manifestations related to the accumulation of free copper in the liver and the brain.

Wilson Disease patients can be either asymptomatic (approx. 10% at diagnosis, most often detected by family screening), or can present with one or more clinical symptoms that may vary in type and severity:

  1. Liver disease includes persistently elevated serum aminotransferases, indicative of liver damage, chronic hepatitis and cirrhosis. Could also progress to advanced liver disease (decompensated liver) and fulminant liver failure. Approx. 5% of all acute liver failures are due to Wilson Disease.
  2. Neurologic manifestations include problems with movement and posture (tremor, Parkinsonism, gait disturbances, dystonia, seizures), speech (dysarthria, pseudobulbar palsy), migraine or insomnia.
  3. Psychiatric disturbances include depression, personality changes or psychosis.

Patients often develop both liver and neuropsychiatric symptoms. None of these disease manifestations are however exclusive for Wilson Disease, which makes the diagnosis challenging.