Wilson's disease is a rare inborn disease related to copper storage, leading to liver cirrhosis and neuropsychological deterioration. Clinical data on larger cohorts are limited owing to low disease frequency.

We performed a retrospective analysis of 163 patients with Wilson's disease, examined at the University of Heidelberg, Heidelberg, Germany, to determine clinical presentation, diagnostic course and long-term outcome.

Diagnostic criteria for non-caeruloplasmin-bound serum copper, serum caeruloplasmin, 24-h urinary copper excretion, liver copper content, presence of Kayser-Fleischer rings and histological signs of chronic liver damage were reached in 86.6%, 88.2%, 87.1%, 92.7%, 66.3% and 73% of patients, respectively. By analysis of the coding region of ATP7B (except exons 2, 3 and 21), disease-causing mutations were detected in 57% and 29% of patients with Wilson's disease on both chromosomes and on one chromosome, respectively. No mutations were detected in 15% of patients with Wilson's disease. No significant differences were found in clinical parameters or initial presentation between patients grouped according to their mutations. The patients with neurological symptoms were significantly older at the onset of symptoms than patients with hepatitic symptoms (20.2 v 15.5 years of age, p<0.05), and the neurological symptoms were associated with a significantly longer time from onset to diagnosis than hepatic symptoms (44.4 v 14.4 months, p<0.05). After initiating treatment, 76.1% of the patients had a stable or improved course of the disease. Disease progression under treatment was more likely for neuropsychiatric than for hepatic symptoms. Side effects of treatment occurred in 74.4% of patients.

Patients with Wilson's disease having predominantly neuropsychiatric symptoms manifest symptoms later, have a longer time delay from onset of symptoms until definitive diagnosis and have a poorer outcome than patients with hepatic symptoms.