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

F. Kirk,K. Rewitz,Zoe Mariño,E. Couchonnal,N. Lanthier,Wiebke Papenthin,Marina Berenguer,A. Poujois,Dominique Debray,Aftab Ala,L. García-Villarreal,T. Pop,Gerald Denk,P. Socha,T. Sandahl

Published 2025 in Orphanet Journal of Rare Diseases

ABSTRACT

Wilson disease (WD) is a rare disorder resulting in copper overload. Diagnosis and treatment are complex and highly specialized. We aimed to investigate the management of WD across Europe in line with the mission and framework of the European Reference Network on Rare Liver Disease (ERN-RARE Liver). A 37-item questionnaire was distributed among European WD centers. Questions related to WD included diagnosis, treatment, monitoring, patient perspectives, and background information. Responding centers were classified as small or large by the number of patients seen per year (</≥ 30/year). Sixty-two physicians from 20 countries responded. 58 were included in the analysis. Most physicians were hepatologists. A high, but incomplete degree of adherence to the international guidelines and Leipzig criteria was found. The majority of centers had a wide range of diagnostic tools available, with the larger being more likely to offer a broader range of standard and research-led diagnostic tools. Although different WD medications were widely available, 8 (21%) of the small centers did not offer trientine, in 4 cases, due to cost. Several areas with variations in responses were also demonstrated, notably in recommendations of low copper diets, initial recognition and management of neurologic WD patients, and degree of patient organization collaboration. Overall, we found uniformity in the management of WD across European WD centers. Nevertheless, variations in key areas were identified, reflecting a lack of robust evidence, thus providing a guide for future research.

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