De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack
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- 作者：Ilaria Romani ; PhD* ; ilaria.romani@unifi.it" class="auth_mail" title="E-mail the corresponding author ; Walter Borsini ; MD* ; Patrizia Nencini ; MD&dagger ; ; Amelia Morrone ; PhD* ; &Dagger ; ; Lorenzo Ferri ; PhD* ; Sabrina Frusconi ; BSc§ ; ; Vincenzo Angelo Donadio ; PhD鈥?/sup> ; Rocco Liguori ; MD鈥?/sup> ; ¶ ; ; Maria Alice Donati ; MD&Dagger ; ; Serena Falconi ; BSc§ ; ; Giovanni Pracucci ; MD* ; Domenico Inzitari ; MD* ; &dagger ;
- 关键词：Fabry disease ; GLA gene variants ; Acute ischemic stroke ; Screening in epidemiology
- 刊名：Journal of Stroke and Cerebrovascular Diseases
- 出版年：2015
- 出版时间：November 2015
- 年：2015
- 卷：24
- 期：11
- 页码：2588-2595
- 全文大小：579 K
文摘
Background and purpose: Cerebrovascular complications are often the first cause of hospitalization in patients with Fabry disease (FD). Screenings for FD among stroke patients have yielded discrepant results, likely as a result of heterogeneous or incomplete assessment. We designed a study to identify FD among adults 60 years of age or younger who were consecutively admitted for acute ischemic stroke or transient ischemic attack (TIA) to a stroke neurology service in Italy. Methods: Patients with first-ever or recurrent events were included, irrespective of gender, risk factors, or stroke type. We screened male patients using 伪-galactosidase A enzyme assay, and female patients using DNA sequencing. FD was eventually established after a broad multidisciplinary discussion. Results: We screened 108 patients (61% males, median age: 48 years); 84% of these patients had stroke. De novo FD diagnosis was established in 3 patients (2.8%; 95% confidence interval, .57-8.18): a 59-year-old man with recurrent lacunar-like strokes and multiple risk factors; a 42-year-old woman with recurrent cryptogenic minor strokes; and a 32-year-old woman with recurrent strokes previously attributed to Behçet's disease. Screened patients were systematically asked for typical FD symptoms; each of the de novo patients reported one or more of the following: episodes of hand/foot pain during fever, angiokeratoma, and family history of heart disease. In all of the patients events were recurrent, and lacunar-like infarcts characterized their brain imaging. Conclusions: Prevalence of FD among nonselected adults 60 years of age or younger with acute ischemic stroke or TIA is not negligible. A systematic search for FD in a stroke setting, using a comprehensive clinical, biochemical, and genetic screening protocol, may be worthwhile.