黏多醣症 II 型患者接受酶替代疗法后的长期心血管预后和死亡率。

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Journal of Inherited Metabolic Disease Pub Date : 2024-07-30 DOI:10.1002/jimd.12779
Ji Hee Kwak, Yong Jun Choi, Sinae Kim, Aram Yang
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引用次数: 0

摘要

黏多醣症 II 型(MPS II)是一种罕见的多系统溶酶体疾病,其心脏问题可导致严重的功能障碍,并增加致命性心力衰竭的风险。然而,有关 MPS II 主要心脏不良事件(MACE)结果的研究却很缺乏。本研究评估了韩国 MPS II 患者的心血管后果和酶替代疗法(ERT)的影响。在这项全国性队列研究中,我们利用全国健康保险数据库的数据,对 127 名 MPS II 患者进行了长达 14 年的评估,以研究 ERT 对 MACE 和全因死亡率的影响。我们追踪了从确诊开始的 MACE 发生率(定义为心血管事件住院),并使用 Cox 模型调整了 MACE 的危险比。在平均 7.3 年的随访期内,我们在患者中发现了 16 例 MACE(每千人年 17.35 例;95% 置信区间,10.74-26.83)。与未接受治疗的患者相比,接受 ERT 治疗的患者的 MACE 发生率明显较低,累计发生率的明显差异为 8.3 年。值得注意的是,在确诊后较早阶段开始 ERT 与改善预后有关,这凸显了及时治疗的重要性。MACE的主要风险因素包括特定心律失常、侵入性手术史和抑郁症。早期 ERT 大大降低了 MPS II 患者的 MACE 风险,提高了存活率。这强调了针对关键风险因素及时启动治疗和全面护理的重要性,并提倡扩大治疗策略以提高 MPS II 的预后。
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Long-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II.

Mucopolysaccharidosis type II (MPS II) is a rare multisystemic lysosomal disorder in which cardiac issues can lead to serious dysfunction and an increased risk of fatal cardiac failure. However, studies on major adverse cardiac event (MACE) outcomes in MPS II are lacking. This study evaluated the cardiovascular outcomes and impact of enzyme replacement therapy (ERT) in patients with MPS II in South Korea. In this national cohort study, utilizing data from the National Health Insurance Database, we evaluated 127 patients with MPS II over a 14-year period to investigate the effects of ERT on MACE and all-cause mortality. We tracked MACE incidence, defined by hospitalizations for cardiovascular events, from diagnosis and adjusted the hazard ratios for MACE using Cox modeling. Over an average follow-up period of 7.3 years, we identified 16 cases of MACE among patients (17.35 per 1000 person-years; 95% confidence interval, 10.74-26.83). Patients receiving ERT exhibited a significantly lower incidence of MACE than untreated patients, with cumulative incidences showing a marked difference of 8.3 years. Notably, initiating ERT at earlier stages post-diagnosis was associated with improved outcomes, underscoring the importance of timely treatment. The key risk factors for MACE included specific arrhythmias, a history of invasive procedures, and depression. Early ERT significantly reduced MACE risk and increased survival in patients with MPS II. This underscores the importance of prompt treatment initiation and comprehensive care to address key risk factors and advocates for an expanded therapeutic strategy to enhance MPS II outcomes.

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来源期刊
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease 医学-内分泌学与代谢
CiteScore
9.50
自引率
7.10%
发文量
117
审稿时长
4-8 weeks
期刊介绍: The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society''s annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).
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