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The Economic Burden, Epidemiological Insights, and Treatment Patterns of Wilson's Disease: A Real-World Study in
Paolo Sciattella1, Matteo Scortichini2, Nora Cazzagon3
1Economic Evaluation and Health Technology Assessment, Faculty of Economics, Centre for Economic and International Studies, University of Rome Tor Vergata, Rome, Italy.
Background:
Wilson's disease (WD) is an autosomal recessive disorder characterized by abnormal copper accumulation, leading to multi-organ damage. The economic impact of WD in Italy has not been comprehensively studied.
Aims:
The objectives were to determine the economic burden of WD, describe the demographic and clinical characteristics, and estimate the treatment distribution over time, using real-world data from Italy.
Methods:
A retrospective multicenter longitudinal chart review study was conducted across six Italian reference centers for WD management. Patients with at least one visit for WD in 2019-2020 were included. Demographic, clinical, and treatment data were collected from medical records, and healthcare resource utilization and related costs were estimated over a 12-month follow-up. Treatment patterns from diagnosis to 2021 were also described.
Results:
A total of 243 patients with WD were included (183 adults, 60 minors). Median age at diagnosis was 11 years in adults and 7 years in minors. At enrollment, hepatic involvement was the most frequent clinical manifestation (84.7% of adults; 80% of minors), while 13.1% of adults and 16.7% of minors were asymptomatic. In adults, use of D-penicillamine and zinc decreased, while trientine tetrahydrochloride use increased over time. In minors, treatment remained stable. The average annual cost per patient was €10,394 for adults (mainly driven by pharmacological treatment) and €1351 for minors. Costs increased with the number of disease manifestations.
Conclusion:
The economic burden of WD in Italy varies with disease severity and treatment strategy, highlighting the need for optimized management practices to mitigate costs while enhancing patient care.
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