{"title":"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","authors":"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","doi":"10.1177/17474930241289864","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Aims: </strong>This study aimed to identify undiagnosed Fabry disease in young adult patients with ischemic stroke in a Taiwanese cohort.</p><p><strong>Methods: </strong>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 <i>GLA</i> gene, covering all exons and a segment of intron 4.</p><p><strong>Results: </strong>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 <i>GLA</i> c.658C>T mutation and experienced ischemic stroke in the bilateral occipital regions. Case 2 had the <i>GLA</i> c.640-801G>A mutation and experienced an ischemic stroke in the left superficial watershed area.</p><p><strong>Conclusion: </strong>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.</p><p><strong>Data access statement: </strong>The collected data will be available upon reasonable request from the corresponding author.</p>","PeriodicalId":14442,"journal":{"name":"International Journal of Stroke","volume":" ","pages":"17474930241289864"},"PeriodicalIF":6.3000,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Investigating undiagnosed Fabry disease in young adults with ischemic stroke: A multicenter cohort study.\",\"authors\":\"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\",\"doi\":\"10.1177/17474930241289864\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>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.</p><p><strong>Aims: </strong>This study aimed to identify undiagnosed Fabry disease in young adult patients with ischemic stroke in a Taiwanese cohort.</p><p><strong>Methods: </strong>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 <i>GLA</i> gene, covering all exons and a segment of intron 4.</p><p><strong>Results: </strong>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 <i>GLA</i> c.658C>T mutation and experienced ischemic stroke in the bilateral occipital regions. Case 2 had the <i>GLA</i> c.640-801G>A mutation and experienced an ischemic stroke in the left superficial watershed area.</p><p><strong>Conclusion: </strong>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.</p><p><strong>Data access statement: </strong>The collected data will be available upon reasonable request from the corresponding author.</p>\",\"PeriodicalId\":14442,\"journal\":{\"name\":\"International Journal of Stroke\",\"volume\":\" \",\"pages\":\"17474930241289864\"},\"PeriodicalIF\":6.3000,\"publicationDate\":\"2024-10-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Stroke\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/17474930241289864\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Stroke","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/17474930241289864","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Investigating undiagnosed Fabry disease in young adults with ischemic stroke: A multicenter cohort study.
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.
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.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
