Disease specific therapy for the treatment of the cardiovascular manifestations of Fabry disease: A systematic review

Christopher Orsborne, Nicholas Black, Josephine Naish, Peter Woolfson, Anna Reid, Matthias Schmitt, Ana Jovanovic, Christopher Miller

Research output: Contribution to journalArticlepeer-review


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 to 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. PROSPERO number: CRD42022295989.
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 heterogenous in their design, outcome measurements and findings, which made assessment of disease specific therapy effectiveness difficult.
Conclusion: 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.
Original languageEnglish
Publication statusAccepted/In press - 8 Jun 2023


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