Management of Wilson disease across Europe: an international physician-oriented survey by the ERN RARE-LIVER group

The study surveyed 58 specialist centres in 20 European countries on how they manage Wilson disease (WD) — covering diagnosis, treatment, monitoring and patient-organisation involvement. Overall adherence to international guidelines and use of the Leipzig criteria was high (91 % of centres) and many diagnostic tools were widely available. Yet, notable variability existed: smaller centres (< 30 WD patients/year) less often had access to certain treatments (e.g., Trientine) and specialised diagnostics. There were marked differences in treatment approaches for non-hepatic phenotypes (neurologic/psychiatric/asymptomatic), low-copper diet recommendations, and monitoring practices (e.g., urine copper excretion methods). The authors conclude that while care is broadly uniform across Europe, key heterogeneities and evidence-gaps remain — highlighting targets for future research and standardisation in WD management.

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