Romani Ilaria, Borsini Walter, Nencini Patrizia, Morrone Amelia, Ferri Lorenzo, Frusconi Sabrina, Donadio Vincenzo Angelo, Liguori Rocco, Donati Maria Alice, Falconi Serena, Pracucci Giovanni, Inzitari Domenico
NEUROFARBA Department, University of Florence, v.le Pieraccini 6, 50139 Florence, Italy.
NEUROFARBA Department, University of Florence, v.le Pieraccini 6, 50139 Florence, Italy.
J Stroke Cerebrovasc Dis. 2015 Nov;24(11):2588-95. doi: 10.1016/j.jstrokecerebrovasdis.2015.07.012. Epub 2015 Aug 19.
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.
Patients with first-ever or recurrent events were included, irrespective of gender, risk factors, or stroke type. We screened male patients using α-galactosidase A enzyme assay, and female patients using DNA sequencing. FD was eventually established after a broad multidisciplinary discussion.
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.
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.
脑血管并发症常常是法布里病（FD）患者住院的首要原因。对中风患者进行FD筛查得到的结果并不一致，这可能是评估异质性或不完整所致。我们设计了一项研究，以在意大利一家中风神经科服务机构中，识别60岁及以下因急性缺血性中风或短暂性脑缺血发作（TIA）连续入院的成年人中的FD患者。
纳入首次发作或复发事件的患者，无论其性别、危险因素或中风类型。我们对男性患者采用α-半乳糖苷酶A酶测定法进行筛查，对女性患者采用DNA测序法进行筛查。最终经过广泛的多学科讨论确定FD诊断。
我们筛查了108例患者（61%为男性，中位年龄：48岁）；其中84%的患者患有中风。3例患者（2.8%；95%置信区间，0.57 - 8.18）被确诊为新发FD：一名59岁男性，有复发性腔隙样中风和多种危险因素；一名42岁女性，有复发性不明原因轻度中风；一名32岁女性，既往复发性中风被归因于白塞病。对筛查患者系统询问了典型的FD症状；每例新发患者均报告了以下一种或多种症状：发热时手足疼痛发作、血管角质瘤以及心脏病家族史。所有患者的事件均为复发性，脑部影像学检查显示为腔隙样梗死。
在60岁及以下患有急性缺血性中风或TIA的非特定成年人中，FD的患病率不可忽视。在中风情况下，使用全面的临床、生化和基因筛查方案系统地寻找FD可能是值得的。
