Sciattella Paolo, Scortichini Matteo, Cazzagon Nora, Loudianos Georgios, Zuin Massimo, Battezzati Pier Maria, Maggiore Giuseppe, Grieco Antonio, Baglione Eugenio, Senzolo Marco, Mazza Silvia, Della Corte Claudia, Tortora Annalisa, Di Dato Fabiola, Matarazzo Margherita, Iorio Raffaele
Economic Evaluation and Health Technology Assessment, Faculty of Economics, Centre for Economic and International Studies, University of Rome Tor Vergata, Rome, Italy.
Department of Surgery, Oncology and Gastroenterology, University of Padova, Padua, Italy.
Drugs Real World Outcomes. 2025 Sep;12(3):391-398. doi: 10.1007/s40801-025-00506-w. Epub 2025 Jul 31.
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.
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.
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.
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.
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.
威尔逊病（WD）是一种常染色体隐性疾病，其特征为铜异常蓄积，导致多器官损害。WD在意大利的经济影响尚未得到全面研究。
本研究旨在利用来自意大利的真实世界数据，确定WD的经济负担，描述其人口统计学和临床特征，并估计随时间推移的治疗分布情况。
在意大利六个WD管理参考中心开展了一项回顾性多中心纵向病历审查研究。纳入在2019 - 2020年至少因WD就诊一次的患者。从病历中收集人口统计学、临床和治疗数据，并在12个月的随访期内估计医疗资源利用情况及相关费用。还描述了从诊断到2021年的治疗模式。
共纳入243例WD患者（183例成人，60例未成年人）。成人诊断时的中位年龄为11岁，未成年人诊断时的中位年龄为7岁。入组时，肝脏受累是最常见的临床表现（成人中占84.7%；未成年人中占80%），而13.1%的成人和16.7%的未成年人无症状。在成人中，D - 青霉胺和锌的使用减少，而盐酸曲恩汀的使用随时间增加。在未成年人中，治疗保持稳定。成人患者的平均年费用为10394欧元（主要由药物治疗驱动），未成年人患者的平均年费用为1351欧元。费用随疾病表现数量的增加而增加。
WD在意大利的经济负担因疾病严重程度和治疗策略而异，这凸显了需要优化管理措施以降低成本同时提高患者护理质量。
