Related Experiment Video
Updated: Jun 12, 2025
Ultrasound Assessment of Endothelial-Dependent Flow-Mediated Vasodilation of the Brachial Artery in Clinical Research
Published on: October 22, 2014
Investigating undiagnosed Fabry disease in young adults with ischemic stroke: A multicenter cohort study
Po-Yu Lin1,2, Tien-Yu Lin1, Sheng-Feng Sung3
1Department of Neurology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan.
Insights
Fabry disease, a cause of ischemic stroke in young adults, was screened in a Taiwanese cohort. Two male patients were diagnosed, highlighting the need for screening policies.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Ischemic stroke incidence is rising in young adults globally.
- Fabry disease is a known cause of stroke in this demographic.
- Disease-modifying treatments exist, but their efficacy in stroke prevention requires more evidence.
Purpose of the Study:
- To identify undiagnosed Fabry disease in young adults experiencing ischemic stroke in Taiwan.
- To determine the prevalence of Fabry disease within this specific patient group.
Main Methods:
- A multicenter, prospective cohort study included 977 patients (aged 20-55) with ischemic stroke or TIA.
- Screening involved dry blood tests for alpha-galactosidase activity (males) and lyso-Gb3 levels (females).
- Genetic diagnosis via Sanger sequencing of the GLA gene confirmed positive screening results.
Main Results:
- Two male patients (0.2% of total cohort, 0.3% of males) were diagnosed with Fabry disease.
- Identified mutations were GLA c.658C>T and GLA c.640-801G>A.
- Stroke locations included bilateral occipital regions and a left superficial watershed area.
Conclusions:
- The prevalence of undiagnosed Fabry disease in young Taiwanese adults with ischemic stroke is low but significant.
- Findings support the need for targeted screening strategies for Fabry disease in at-risk young populations.
- Understanding prevalence can inform future screening policies and early intervention efforts.
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.
