Daniel-Robin Thomas, Kumar Pradeep, Benichou Bernard, Combal Jean-Philippe
Vivet Therapeutics, Paris 75008, France.
Clarivate, Noida 201301, Uttar Pradesh, India.
World J Hepatol. 2024 May 27;16(5):791-799. doi: 10.4254/wjh.v16.i5.791.
Wilson disease (WD) is a progressive, potentially fatal degenerative disease affecting the liver and central nervous system. Given its low prevalence, collecting data on large cohorts of patients with WD is challenging. Comprehensive insurance claims databases provide powerful tools to collect retrospective data on large numbers of patients with rare diseases.
To describe patients with WD in the United States, their treatment and clinical outcome, using a large insurance claims database.
This retrospective, longitudinal study was performed in the Clarivate Real-World Data Product database All patients with ≥ 2 claims associated with an International Classification of Diseases 10 (ICD-10) diagnostic code for WD (E83.01) between 2016 and 2021 were included and followed until death or study end. Patients were divided into two groups by whether or not they were documented to have received a specific treatment for WD. Clinical manifestations, hospitalisations, liver transplantation and death were documented.
Overall, 5376 patients with an ICD-10 diagnostic code for WD were identified. The mean age at inclusion was 41.2 years and 52.0% were men. A specific WD treatment was documented for 885 patients (15.1%), although the number of patients taking zinc salts may be underestimated due to over the counter purchase. At inclusion, the mean age of patients with a documented treatment was 36.6 ± 17.8 years 42.2 ± 19.6 years in those without a documented treatment. During follow-up, 273 patients (5.1%) died. Compared with the American general population, the standardised mortality ratio was 2.19. The proportion of patients with a documented WD-specific treatment who died during follow-up was 4.0% and the mean age at death 52.7 years.
Patients treated for WD in the United States had an excess early mortality compared with the American population. These findings indicate that there is a significant unmet need for effective treatment for WD in the United States.
威尔逊病（WD）是一种进行性、可能致命的退行性疾病，会影响肝脏和中枢神经系统。鉴于其患病率较低，收集大量WD患者的数据具有挑战性。综合保险理赔数据库为收集大量罕见病患者的回顾性数据提供了强大工具。
利用大型保险理赔数据库描述美国WD患者及其治疗情况和临床结局。
本回顾性纵向研究在科睿唯安真实世界数据产品数据库中进行。纳入2016年至2021年间有≥2次与国际疾病分类第10版（ICD-10）WD诊断代码（E83.01）相关理赔的所有患者，并随访至死亡或研究结束。根据是否有接受WD特定治疗的记录将患者分为两组。记录临床表现、住院情况、肝移植和死亡情况。
总体而言，共识别出5376例有ICD-10 WD诊断代码的患者。纳入时的平均年龄为41.2岁，男性占52.0%。885例患者（15.1%）有WD特定治疗的记录，不过由于非处方购买，服用锌盐的患者数量可能被低估。纳入时，有治疗记录的患者平均年龄为36.6±17.8岁，无治疗记录的患者为42.2±19.6岁。随访期间，273例患者（5.1%）死亡。与美国普通人群相比，标准化死亡率为2.19。有WD特定治疗记录的患者在随访期间死亡的比例为4.0%，平均死亡年龄为52.7岁。
在美国，接受WD治疗的患者早期死亡率高于美国人群。这些发现表明，美国对WD有效治疗存在重大未满足需求。
