From the Division of Neurology, Department of Medicine, Hôpital du Sacré-Cœur de Montréal, Quebec, Canada (S.L.); Department of Neurosciences, Faculty of Medicine, University of Montreal, Quebec, Canada (S.L.); Stroke Outcomes Research Unit, Division of Neurology, Department of Medicine (G.S., D.S.), Department of Health Policy, Management and Evaluation (G.S.), Applied Health Research Centre (G.L., K.P.), St. Michael's Hospital, Toronto, Ontario, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Ontario, Canada (G.L.); and Department of Neurology, University of North Dakota, Grand Forks (D.F.M.).
Stroke. 2017 Jul;48(7):1766-1772. doi: 10.1161/STROKEAHA.116.016083. Epub 2017 Jun 8.
Previous studies reported Fabry disease in 0% to 4% of young patients with cryptogenic ischemic stroke (IS). We sought to determine the prevalence of Fabry and outcomes among young Canadians with cryptogenic IS or transient ischemic attack (TIA).
We prospectively enrolled individuals aged 18 to 55 with IS or speech or motor TIA, and no cause identified despite predetermined investigation. gene was sequenced for Fabry diagnosis. National Institutes of Health Stroke Scale score was measured at presentation to quantify stroke severity. Modified Rankin Scale determined functional outcomes ≤7 days after presentation and 6 months later.
We enrolled 365 patients with IS and 32 with TIA. sequencing identified a single carrier of a genetic variant of unknown significance (p.R118C) and no well-recognized pathogenic variants. Mean National Institutes of Health Stroke Scale score was 3.1. Proportion of patients with modified Rankin Scale of 0 to 2 was 70.7% at ≤7 days and 87.4% at 6 months. National Institutes of Health Stroke Scale score at presentation and diabetes mellitus predicted 6-month modified Rankin Scale. Thirteen patients experienced 5 recurrent IS and 9 TIA during follow-up. No patient died. Most patients (98.7%) returned home. Among previous workers, 43% had residual working limitations.
In this Canadian cohort of patients with cryptogenic IS or TIA, the prevalence of Fabry was 0.3% if p.R118C variant is considered as pathogenic. This suggests that more cost-effective methods should be applied for diagnosis of Fabry rather than systematic genetic screening in this population. Overall, cryptogenic IS in young adults is associated with favorable outcomes.
先前的研究报告称，在原因不明的缺血性卒中（IS）年轻患者中，Fabry 病的患病率为 0%至 4%。我们旨在确定在加拿大患有原因不明的 IS 或短暂性脑缺血发作（TIA）的年轻患者中 Fabry 病的患病率和结局。
我们前瞻性地招募了年龄在 18 至 55 岁之间的 IS 或言语或运动性 TIA 患者，尽管进行了预定的检查，但仍未确定病因。进行基因测序以诊断 Fabry 病。在发病时测量国立卫生研究院卒中量表（NIHSS）评分以量化卒中严重程度。改良 Rankin 量表（mRS）在发病后 7 天内和 6 个月后评估功能结局。
我们共纳入 365 例 IS 患者和 32 例 TIA 患者。基因测序发现了一种单一的遗传变异携带者，其为意义不明的变异（p.R118C），且无公认的致病性变异。NIHSS 的平均评分是 3.1。发病后≤7 天 mRS 评分为 0 至 2 的患者比例为 70.7%，6 个月时为 87.4%。发病时 NIHSS 评分和糖尿病预测了 6 个月时 mRS。在随访期间，13 例患者发生 5 次复发性 IS 和 9 次 TIA。无患者死亡。大多数患者（98.7%）返回家中。在之前的研究中，43%的患者存在工作受限。
在这个加拿大的原因不明的 IS 或 TIA 患者队列中，如果将 p.R118C 变异视为致病性，则 Fabry 病的患病率为 0.3%。这表明，在该人群中，应采用更具成本效益的方法进行 Fabry 病的诊断，而不是进行系统的基因筛查。总的来说，年轻成人的原因不明性 IS 与良好的结局相关。
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