A Longitudinal Study of Epidemiology and Treatment Management of Wilson Disease in France Based on the French National Claims Database SNDS

OBJECTIVES: The aim of this study was to evaluate longitudinal trends in the epidemiology and management of patients with WD (Wilson disease) identified in the French national health insurance database (SNDS).

METHODS: The study included all patients with at least one medical claim for hospitalisation with the ICD-10 diagnostic code for WD (E83.0*: copper metabolism disorder) or eligible for ALD status for WD between 1st January 2009 to 31st December 2019. For each patient, data were extracted on age, gender, hospitalisations, liver transplantation, mortality, WD-specific treatments (D-penicillamine, trientine and zinc), disability status and sick leave.

RESULTS: 1,928 patients with WD were identified, of whom 1,520 (78.8%) were analysed. Prevalence of WD in 2019 was estimated as 2.2 cases per 100,000. The median age of the total cohort at inclusion was 39 years and 48% of patients were women. At inclusion, 67% of patients were symptomatic, with a spectrum of hepatic, neurological or psychiatric symptoms. In the first year, 995 patients (65.6%) were hospitalised at least once for a mean duration of 4.4 ± 10.9 days. In the following year, the proportion declined to 41.7% and remained around 40% for the remainder of the follow-up period. 152 patients (10.0%) underwent liver transplantation and 205 died (13.5%). The mean age at death was 57.9±23.1 years. 665 patients (43.8%) received a WD-specific treatment at least once. 167 patients (17.1%) received a government disability pension and 624 (41.1%) benefited from long-term illness status due to WD.

CONCLUSIONS: Unexpectedly, less than half of patients with WD ICD-10 diagnostic code received treatment recommended in practice guidelines, which may contribute to a high disease burden in terms of hospitalisations, disability and reduced life expectancy. Improving treatment rates, building patient awareness of long-term disease impact or developing a new paradigm of treatment could make a significant contribution to reducing the disease burden.