Presentation (CTI)

OBJECTIVES: Wilson’s disease (WD) is a rare, hereditary disorder in which the body accumulates excessive copper, mainly in the liver, brain, and eyes. Epidemiological data on WD are not well understood. This review summarises the available evidence on the epidemiology of WD in Europe.
METHODS: Structured literature searches of MEDLINE^® and Embase^® databases were performed through Embase.com to identify English-language studies without date restrictions for full manuscripts, while conference abstracts were limited to 2020 and later. Studies were selected based on predefined criteria.
RESULTS: Out of 519 citations identified, 30 studies underwent full-text review, of which seven were included. These observational studies were conducted in France (n=3), Germany (n=2), the UK (n=1), and Finland (n=1). The prevalence estimates varied across countries. In the UK, the clinical prevalence of WD was 15.5 per million, with sex-specific estimates of 16.9 per million in males and 14.1 per million in females, based on data from 2011-2018 from the Nottingham University Hospital NHS Trust catchment area. In France, a national database analysis using the Système National des Données de Santé reported a prevalence of 22 per million and an annual incidence of 8-23 per million in 2019. In Germany, claims data from the WIG2 benchmark database indicated a prevalence of 20.3 per million, with hepatic (57%), psychiatric (49%), and neurologic (44%) manifestations frequently observed. The prevalence was lowest in Finland, ranging from 3.5 to 4.4 per million (0.35-0.44 per 100,000), and an annual incidence of 0.16 per million (0.016 per 100,000), based on nationwide data from the Care Register for Health Care and Fimea, the Finnish Medicines Agency.
CONCLUSIONS: Prevalence estimates of WD in Europe range from about 3.5 to 22 per million. The observed variability highlights the need for standardized methods and better data to understand Wilson’s disease burden and inform policy across Europe.