Sheng Sen, Wu Leihong, Nalleballe Krishna, Sharma Rohan, Brown Aliza, Ranabothu Saritha, Kapoor Nidhi, Onteddu Sanjeeva
Department of Neurology, University of Arkansas for Medical Sciences, 4301 West Markham Street, Slot 500, Little Rock, AR 72205, United States.
National Center for Toxicological Research, 3900 NCTR Rd., Jefferson, AR 72079, United States.
J Clin Neurosci. 2019 Jul;65:83-86. doi: 10.1016/j.jocn.2019.03.064. Epub 2019 Apr 4.
Fabry's disease, is the most prevalent lysosomal storage disorder and is notorious for its early multi-organ involvement leading to complications, including ischemic strokes and transient ischemic attacks. Since 2001, enzyme replacement therapy (ERT) has become the mainstay treatment for Fabry's patients but the indications are not clearly defined. We did a meta-analysis of the available data to review the benefit of ERT for stroke prevention in Fabry's patients.
A literature search was performed from National Center for Biotechnology information (NCBI)/PubMed database without restriction of years for systematic review purposes. A systematic review of clinical cohort studies and trials was performed with pooled analysis of proportions. The pooled proportions and the confidence intervals (CI) for stroke recurrence ratio were calculated for both ERT treatment group and native treatment groups.
A total of 7 cohort studies and 2 RCTs involving 7513 participants (1471 on ERT vs 6042 on native treatment) met inclusion criteria. The pooled proportions analysis showed that the stroke recurrence ratio in the ERT treatment group was 8.2% [95% CI 0.038, 0.126] and in native-treatment group was 16% [95% CI; 0.102, 0.217]. Effect differences favored ERT treatment group over native treatment group (p = 0.03).
Our meta-analysis based on the currently available data showed that ERT for Fabry's disease has beneficial effect on stroke prevention. Female carriers and atypically affected males could be started on ERT as soon as diagnosis is made. Further studies are warranted to support the role of ERT in stroke prevention.
法布里病是最常见的溶酶体贮积症，因其早期多器官受累导致包括缺血性卒中和短暂性脑缺血发作在内的并发症而声名狼藉。自2001年以来，酶替代疗法（ERT）已成为法布里病患者的主要治疗方法，但适应证尚未明确界定。我们对现有数据进行了荟萃分析，以评估ERT对法布里病患者预防卒中的益处。
为进行系统评价，从美国国立生物技术信息中心（NCBI）/PubMed数据库进行了不限年份的文献检索。对临床队列研究和试验进行了系统评价，并对比例进行了汇总分析。计算了ERT治疗组和原治疗组卒中复发率的汇总比例和置信区间（CI）。
共有7项队列研究和2项随机对照试验涉及7513名参与者（1471名接受ERT治疗，6042名接受原治疗）符合纳入标准。汇总比例分析显示，ERT治疗组的卒中复发率为8.2%[95%CI 0.038，0.126]，原治疗组为16%[95%CI；0.102，0.217]。效应差异表明ERT治疗组优于原治疗组（p = 0.03）。
我们基于现有数据的荟萃分析表明，法布里病的ERT对预防卒中具有有益作用。女性携带者和非典型受累男性一旦确诊即可开始接受ERT治疗。有必要进行进一步研究以支持ERT在预防卒中中的作用。
