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

## TL;DR

This study surveyed European doctors about how they manage Wilson disease, finding mostly consistent practices but some key differences in treatment and diagnosis.

## Contribution

The study provides a comprehensive overview of Wilson disease management practices across Europe, highlighting areas of variation and potential for future research.

## Key findings

- Most European centers adhere to international guidelines for Wilson disease management, though not completely.
- Smaller centers are less likely to offer certain medications like trientine due to cost.
- Variations exist in dietary recommendations and handling of neurological cases.

## 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.

The online version contains supplementary material available at 10.1186/s13023-025-04103-6.