LAUSR

BACKGROUND Wilson's disease (WD) is a rare autosomal recessive disorder causing excessive copper deposition and a spectrum of manifestations, particularly neurological and hepatic symptoms. Over seven decades (<1959 to 2019), we analysed the clinical characteristics of patients with WD admitted to the country's only reference centre, which provided long-term care to most adult patients in Poland. METHODS Electronic prospective data collection began in the 2000s and for prior years, medical records were analysed retrospectively. Demographic and clinical characteristics, treatment and outcomes were analysed by a decade of diagnosis. Life-years lost were estimated compared with the general population. Kaplan-Maier curves were used for a time-to-death analysis using 2000-2009 as a reference. RESULTS In total, 929 patients were analysed. The number of patients diagnosed increased from 21 before 1959 to 315 from 2000-2009. Mostly males were diagnosed before the 1990s, but the numbers of females diagnosed increased thereafter. Initially, patients presented with neurological manifestations; however, the incidence of hepatic manifestations and asymptomatic presentations increased as well as patients were diagnosed when independent. Less Kayser-Fleischer rings were detected latterly. Prior to 1970, patients were treated with D-penicillamine; however, since the introduction of zinc, both therapies have been used at similar frequencies. Since the 1990s, switches between D-penicillamine and zinc were recorded in 6-7% of patients. Consistent improvement in survival has been observed over the years. CONCLUSIONS This is the largest cohort of patients with WD reported in Poland with the longest follow-up. Earlier diagnosis and prognosis have improved over seven decades.