Departments of Medicine and Health Policy, Management and Evaluation, Division of Neurology, Stroke Outcomes Research Unit, St. Michael's Hospital, University of Toronto, Toronto, ON, Canada.
Int J Stroke. 2012 Apr;7(3):265-73. doi: 10.1111/j.1747-4949.2011.00734.x. Epub 2012 Jan 20.
Stroke in young adults is etiologically diverse and may represent a diagnostic challenge remaining cryptogenic in one-fourth of cases. Limited information is available on the prevalence of Fabry's disease, a treatable multisystem inherited lysosomal storage disorder, and disability in young patients with cryptogenic stroke.
The Canadian Fabry Stroke Screening Initiative (CFSSI) is a prospective multicenter cohort study of young adults (age 18-55) presenting with an ischemic stroke, transient ischemic attack, or intracerebral haemorrhage of unknown etiology to stroke centres across Canada. Diagnosis of Fabry's disease is made by direct DNA analysis of blood samples for α-galactosidase gene mutations or polymorphisms. Demographics, clinical information, and investigations including brain Magnetic Resonance Imaging (MRI) are collected. Functional neurological assessment includes neurological examination, the National Institutes of Health (NIH) stroke scale, modified Rankin scale, and the Barthel index. A follow-up interview is conducted by telephone or in person approximately six-months after the index stroke/transient ischemic attack/intracerebral haemorrhage to determine patient outcomes, quality of life, and patient use of medications.
Prevalence of positive DNA mutation or single nucleotide polymorphism screens for Fabry's disease as a proportion of total cryptogenic stroke. Secondary outcomes include incident risk of new or recurrent vascular event at six-months, discharge disposition, disability at six-months as measured by the modified Rankin scale, mean time from symptoms onset to the definite etiological diagnosis, and length of hospital stay.
This study constitutes the first initiative to determine the prevalence of a positive screen for Fabry's disease in young adults with stroke in Canada. Moreover, the Canadian Fabry Stroke Screening Initiative will provide information on recurrent vascular events, disability at six-months (modified Rankin scale), and disposition in this understudied population.
年轻人发生的中风病因多样，四分之一的病例可能仍然无法明确病因。关于法布里病（一种可治疗的多系统遗传性溶酶体贮积症）在年轻的隐匿性中风患者中的患病率和残疾情况，相关信息有限。
加拿大法布里病中风筛查计划（CFSSI）是一项针对加拿大各地中风中心就诊的年龄在 18-55 岁之间的缺血性中风、短暂性脑缺血发作或原因不明的颅内出血的年轻成人（18-55 岁）的前瞻性多中心队列研究。通过对血液样本进行α-半乳糖苷酶基因突变或多态性的直接 DNA 分析，诊断法布里病。收集人口统计学、临床信息和检查，包括脑磁共振成像（MRI）。神经功能评估包括神经系统检查、国立卫生研究院（NIH）中风量表、改良 Rankin 量表和巴氏量表。在索引中风/短暂性脑缺血发作/颅内出血后约 6 个月，通过电话或亲自进行随访访谈，以确定患者结局、生活质量和患者用药情况。
法布里病阳性 DNA 突变或单核苷酸多态性筛查在隐匿性中风中的总比例。次要结果包括 6 个月时新发或复发性血管事件的发生率、出院情况、6 个月时改良 Rankin 量表评估的残疾程度、从症状发作到明确病因诊断的平均时间，以及住院时间。
该研究首次确定了加拿大年轻中风患者中法布里病阳性筛查的患病率。此外，加拿大法布里病中风筛查计划将提供关于复发性血管事件、6 个月时的残疾（改良 Rankin 量表）和该人群的出院情况的信息。
