Orphanet Journal of Rare Diseases · 10 authors, 6 centres
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A cross-sectional questionnaire survey of 108 departments across 36 German university hospitals assessed how Wilson disease patients are diagnosed, treated, and monitored against international guidelines. The study found that while routine monitoring intervals and family screening largely adhered to guidelines, formal use of recommended diagnostic algorithms and multidisciplinary treatment approaches remained uncommon.
Researchers distributed a 20-question questionnaire to 108 departments of pediatrics, neurology, and gastroenterology across 36 German university hospitals to evaluate care patterns for Wilson disease (WD) patients, performing descriptive statistical analysis. Sixty-three departments (58%) responded, collectively treating approximately 950 WD patients annually, representing roughly one-third of estimated WD patients in Germany. The survey assessed diagnostic methods, therapeutic strategies, monitoring intervals, family screening, and management during pregnancy. Adherence to guideline recommendations was strong for routine monitoring, with 84% of departments performing monitoring at least biannually, and for family screening (84%). However, only 51% of departments used the guideline-recommended Leipzig score algorithm for diagnosis, and only 12% operated in a multidisciplinary setting. D-penicillamine was used as first-line therapy in 72% of patients on average, while zinc salt monotherapy was reported by 43% of departments. The findings suggest that while core clinical practices generally align with international standards, the consolidation of WD care into multidisciplinary centers should be evaluated to improve patient outcomes.
