Investigating undiagnosed Fabry disease in young adults with ischemic stroke: A multicenter cohort study.

IF 6.3 2区 医学 Q1 CLINICAL NEUROLOGY International Journal of Stroke Pub Date : 2024-10-18 DOI:10.1177/17474930241289864
Po-Yu Lin, Tien-Yu Lin, Sheng-Feng Sung, Helen L Po, Li-Chi Hsu, Sung-Chun Tang, Yen-Chu Huang, Cheng-Yang Hsieh, Yung-Chu Hsu, Ren-Ying Wu, Cheng-Chi Hsieh, Pi-Shan Sung, Chih-Hung Chen
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Abstract

Background: The global prevalence of ischemic stroke in young adults is increasing, leading to a significant social impact. Fabry disease is a recognized cause of ischemic stroke in young patients, and although disease-modifying treatments are available, further evidence is needed to confirm their effectiveness in reducing the incidence of ischemic strokes.

Aims: This study aimed to identify undiagnosed Fabry disease in young adult patients with ischemic stroke in a Taiwanese cohort.

Methods: This multicenter, prospective cohort study enrolled patients aged 20-55 years who had experienced an ischemic stroke or transient ischemic attack (TIA) within 10 days, from 1 January 2016 to 31 December 2020. Screening for Fabry disease was performed using a dry blood test to measure α-galactosidase activity in male patients and blood globotriaosylsphingosine (lyso-Gb3) levels in female patients. For patients with positive screen results, genetic diagnosis of Fabry disease was pursued through Sanger sequencing of the GLA gene, covering all exons and a segment of intron 4.

Results: A total of 977 patients (659 male, 68%) were enrolled from seven hospitals across Taiwan. Four patients (0.4%, all male) had positive screening results, and two patients (0.2%) were genetically diagnosed with Fabry disease. Case 1 had the GLA c.658C>T mutation and experienced ischemic stroke in the bilateral occipital regions. Case 2 had the GLA c.640-801G>A mutation and experienced an ischemic stroke in the left superficial watershed area.

Conclusion: The prevalence of undiagnosed Fabry disease in this cohort of Taiwanese young adults with ischemic stroke or TIA was 0.3% among the young male population. Understanding the prevalence of undiagnosed Fabry disease in young adults with ischemic stroke could help shape future Fabry disease screening policies.

Data access statement: The collected data will be available upon reasonable request from the corresponding author.

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调查缺血性中风青年患者中未确诊的法布里病:多中心队列研究
背景:全球青壮年缺血性中风的发病率正在上升,对社会造成了重大影响。法布里病是年轻患者缺血性脑卒中的公认病因之一,虽然目前已有改变病情的治疗方法,但还需要进一步的证据来证实其在降低缺血性脑卒中发病率方面的有效性:这项多中心、前瞻性队列研究招募了 20 至 55 岁、2016 年 1 月 1 日至 2020 年 12 月 31 日 10 天内经历过缺血性脑卒中或短暂性脑缺血发作 (TIA) 的患者。法布里病筛查采用干血检测法,男性患者检测α-半乳糖苷酶活性,女性患者检测血液中球蛋白鞘氨醇(lyso-Gb3)水平。对筛查结果呈阳性的患者,通过对 GLA 基因进行 Sanger 测序(包括所有外显子和一段 4 号内含子),进行法布里病的基因诊断:结果:共有来自台湾 7 家医院的 977 名患者(659 名男性,占 68%)参与了研究。4名患者(0.4%,均为男性)的筛查结果呈阳性,2名患者(0.2%)被基因诊断为法布里病。病例 1 患有 GLA c.658C>T 突变,双侧枕部缺血性中风。病例 2 患有 GLA c.640-801G>A 突变,左侧浅分水岭区域发生缺血性中风:结论:在这批患有缺血性中风或 TIA 的台湾年轻男性人群中,未确诊法布里病的患病率为 0.3%。了解缺血性中风青壮年中未确诊法布里病的患病率有助于制定未来的法布里病筛查政策。
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来源期刊
International Journal of Stroke
International Journal of Stroke 医学-外周血管病
CiteScore
13.90
自引率
6.00%
发文量
132
审稿时长
6-12 weeks
期刊介绍: The International Journal of Stroke is a welcome addition to the international stroke journal landscape in that it concentrates on the clinical aspects of stroke with basic science contributions in areas of clinical interest. Reviews of current topics are broadly based to encompass not only recent advances of global interest but also those which may be more important in certain regions and the journal regularly features items of news interest from all parts of the world. To facilitate the international nature of the journal, our Associate Editors from Europe, Asia, North America and South America coordinate segments of the journal.
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