PDF(Pubmed)
Abstract：
OBJECTIVE: The cardiovascular manifestations of Fabry disease are common and represent the leading cause of death. Disease-specific therapy, including enzyme replacement therapy (ERT) and chaperone therapy (migalastat), is recommended for patients exhibiting cardiovascular involvement, but its efficacy for modulating cardiovascular disease expression and optimal timing of initiation remains to be fully established. We therefore aimed to systematically review and evaluate the effectiveness of disease-specific therapy compared with placebo, and to no intervention, for the cardiovascular manifestations of Fabry disease.
METHODS: Eight databases were searched from inception using a combination of relevant medical subject headings and keywords. Randomised, non-randomised studies with a comparator group and non-randomised studies without a comparator group were included. Studies were screened for eligibility and assessed for bias by two independent authors. The primary outcome comprised clinical cardiovascular events. Secondary outcomes included myocardial histology and measurements of cardiovascular structure, function and tissue characteristics.
RESULTS: 72 studies were included, comprising 7 randomised studies of intervention, 16 non-randomised studies of intervention with a comparator group and 49 non-randomised studies of intervention without a comparator group. Randomised studies were not at serious risk of bias, but the others were at serious risk. Studies were highly heterogeneous in their design, outcome measurements and findings, which made assessment of disease-specific therapy effectiveness difficult.
CONCLUSIONS: It remains unclear whether disease-specific therapy sufficiently impacts the cardiovascular manifestations of Fabry disease. Further work, ideally in larger cohorts, with more standardised clinical and phenotypic outcomes, the latter measured using contemporary techniques, are required to fully elucidate the cardiovascular impact of disease-specific therapy.
UNASSIGNED: CRD42022295989.
METHODS: Eight databases were searched from inception using a combination of relevant medical subject headings and keywords. Randomised, non-randomised studies with a comparator group and non-randomised studies without a comparator group were included. Studies were screened for eligibility and assessed for bias by two independent authors. The primary outcome comprised clinical cardiovascular events. Secondary outcomes included myocardial histology and measurements of cardiovascular structure, function and tissue characteristics.
RESULTS: 72 studies were included, comprising 7 randomised studies of intervention, 16 non-randomised studies of intervention with a comparator group and 49 non-randomised studies of intervention without a comparator group. Randomised studies were not at serious risk of bias, but the others were at serious risk. Studies were highly heterogeneous in their design, outcome measurements and findings, which made assessment of disease-specific therapy effectiveness difficult.
CONCLUSIONS: It remains unclear whether disease-specific therapy sufficiently impacts the cardiovascular manifestations of Fabry disease. Further work, ideally in larger cohorts, with more standardised clinical and phenotypic outcomes, the latter measured using contemporary techniques, are required to fully elucidate the cardiovascular impact of disease-specific therapy.
UNASSIGNED: CRD42022295989.
摘要：
目的：法布里病的心血管表现很常见，是导致死亡的主要原因。疾病特异性治疗,包括酶替代疗法（ERT）和伴侣疗法（Migalastat），推荐给表现出心血管疾病的患者，但其在调节心血管疾病表达和最佳启动时机方面的功效仍有待完全确定。因此，我们旨在系统地回顾和评估疾病特异性治疗与安慰剂相比的有效性，没有干预，法布里病的心血管表现。
方法：从一开始就使用相关医学主题词和关键词搜索了八个数据库。随机化,纳入了有比较组的非随机研究和无比较组的非随机研究.由两名独立作者筛选研究的资格并评估偏倚。主要结果包括临床心血管事件。次要结果包括心肌组织学和心血管结构的测量，功能和组织特征。
结果：纳入了72项研究，包括7项随机干预研究，16个比较组干预的非随机研究和49个无比较组干预的非随机研究。随机研究没有严重的偏倚风险，但其他人面临严重风险。研究在设计上高度异质，结果测量和发现，这使得对疾病特异性治疗有效性的评估变得困难。
结论：目前尚不清楚疾病特异性治疗是否足以影响法布里病的心血管表现。进一步的工作,理想情况下，在较大的队列中，有了更标准化的临床和表型结果，后者使用当代技术测量，需要充分阐明疾病特异性治疗对心血管的影响。
■CRD42022295989。
方法：从一开始就使用相关医学主题词和关键词搜索了八个数据库。随机化,纳入了有比较组的非随机研究和无比较组的非随机研究.由两名独立作者筛选研究的资格并评估偏倚。主要结果包括临床心血管事件。次要结果包括心肌组织学和心血管结构的测量，功能和组织特征。
结果：纳入了72项研究，包括7项随机干预研究，16个比较组干预的非随机研究和49个无比较组干预的非随机研究。随机研究没有严重的偏倚风险，但其他人面临严重风险。研究在设计上高度异质，结果测量和发现，这使得对疾病特异性治疗有效性的评估变得困难。
结论：目前尚不清楚疾病特异性治疗是否足以影响法布里病的心血管表现。进一步的工作,理想情况下，在较大的队列中，有了更标准化的临床和表型结果，后者使用当代技术测量，需要充分阐明疾病特异性治疗对心血管的影响。
■CRD42022295989。
