Wilson France: a national database for Wilson’s disease

Results Since 2006, 281 patients (1-73 year old) were included in the Wilson France database (sex ratio: 1). Mean age at diagnosis was 19 years. First symptoms were neurological for 36% of the patients, hepatic for 38%, renal, psychiatric or hematologic for 11%. Fifteen percent were diagnosed after familial screening. At time of diagnosis, Kayser-Fleischer ring was observed in 95% of patients with neurological symptoms, in 55% of hepatic presentations and in 26% of the presymptomatic forms. Mean coeruloplasminemia was low (0.08 g/L) but 5% of patients had normal values (>0.2 g/L). Mean urinary copper was increased in 96% of the patients. Genetic investigation was not conclusive in 15.9 % of the families (only one or no mutation found). First treatment was D-Penicillamine in 85% of the cases and after a mean follow up of 15 years, the treatment was D-Penicillamine for 44.4% of the patients, Trientine for 14.4%, Zinc for 26.7%, association of chelator and zinc for 5.6 %; 5.6 % of the patients had liver transplantation.