Symptoms in Wilson Disease

Wilson Disease is clinically characterized by liver, neurological and psychiatric manifestations related to the accumulation of free copper in the liver and the brain. The clinical presentation of Wilson Disease is variable in both type of presentation and severity when developed in patients.

Initial signs of Wilson Disease are either associated with the liver (approximately 40 percent), the central nervous system (approximately 40 percent) or psychiatric (approximately 20 percent), although patients often develop combined liver and neuropsychiatric manifestations. Many patients with initial CNS involvement have liver disease at the time of presentation. Clinical manifestations of the liver in Wilson Disease include persistently elevated serum aminotransferases, indicating liver damage, chronic hepatitis and cirrhosis. Neurological manifestations include problems with movement and posture (tremor, Parkinsonism, gait disturbances, dystonia, seizures), speech (dysarthria, pseudobulbar palsy), migraine or insomnia. Wilson Disease patients may also present with psychiatric symptoms, such as depression, personality changes or psychosis. None of these disease manifestations are however exclusive for Wilson Disease and could therefore be difficult to derive from Wilson Disease. Kayser-Fleischer rings, deposits of copper around the iris, are characteristic of Wilson Disease. However, only a subset of Wilson Disease patients develops Kayser-Fleischer rings.