Vivet Therapeutics, Paris, France.
Vivet Therapeutics, Paris, France.
Clin Res Hepatol Gastroenterol. 2022 Dec;46(10):101992. doi: 10.1016/j.clinre.2022.101992. Epub 2022 Jul 3.
BACKGROUND & AIMS: Wilson disease (WD) is a rare hereditary, debilitating disease that is fatal if untreated. Given its low prevalence, collecting longitudinal information on large cohorts of patients is challenging. Analysis of health insurance databases offers an approach to meet this challenge. The aim of this study was to evaluate longitudinal trends in the presentation and management of patients with WD identified in the French national health insurance database (SNDS).
This retrospective, longitudinal, observational study identified people with WD in the SNDS database through hospitalisation diagnosis codes and long-term illness status between 2009 and 2019 inclusive. For each patient, data were extracted on hospitalisations, liver transplantation, mortality, WD-specific treatments (d-penicillamine, trientine and zinc), disability status and sick leave.
1,928 patients with WD were identified, of whom 1,520 (78.8%) were analysed. Prevalence of WD in 2019 was estimated as 2.2 cases per 100,000. Of the 670 patients first documented between 2010 and 2019, 76.1% were hospitalised at least once for a mean duration of 4.63±10.6 days. 152 patients (10.0%) underwent liver transplantation and 205 died (13.5%). The mean age at death was 57.9 ± 23.1 years. 665 patients (43.8%) received a WD-specific treatment at least once. 167 patients (17.1%) received a government disability pension and 624 (41.1%) benefited from long-term illness status due to WD.
Unexpectedly, less than half of patients with WD received treatment recommended in practice guidelines, which may contribute to a high disease burden in terms of hospitalisations, disability and reduced life expectancy. Improving treatment rates, building patient awareness of long-term disease impact or developing a new paradigm of treatment could make a significant contribution to reducing the disease burden.
威尔逊病（WD）是一种罕见的遗传性、使人虚弱的疾病，如果不治疗则可能致命。由于其发病率较低，收集大量患者的纵向信息具有挑战性。分析健康保险数据库提供了一种应对这一挑战的方法。本研究的目的是评估法国国家健康保险数据库（SNDS）中发现的 WD 患者的表现和治疗的纵向趋势。
这项回顾性、纵向、观察性研究通过住院诊断代码和 2009 年至 2019 年期间的长期疾病状态在 SNDS 数据库中识别 WD 患者。对于每位患者，提取了住院、肝移植、死亡率、WD 特异性治疗（D-青霉胺、曲恩汀和锌）、残疾状况和病假的数据。
共确定了 1928 例 WD 患者，其中 1520 例（78.8%）进行了分析。2019 年 WD 的患病率估计为每 10 万人 2.2 例。在 2010 年至 2019 年首次记录的 670 例患者中，76.1%至少住院一次，平均住院时间为 4.63±10.6 天。152 例患者（10.0%）接受了肝移植，205 例患者死亡（13.5%）。死亡时的平均年龄为 57.9±23.1 岁。665 例患者（43.8%）至少接受过一次 WD 特异性治疗。167 例患者（17.1%）获得了政府残疾抚恤金，624 例患者（41.1%）因 WD 获得了长期疾病状态。
出乎意料的是，不到一半的 WD 患者接受了实践指南推荐的治疗，这可能导致住院、残疾和预期寿命缩短的疾病负担增加。提高治疗率、提高患者对长期疾病影响的认识或开发新的治疗模式，可能会对减轻疾病负担做出重大贡献。
