The effect of enzyme replacement therapy on clinical outcomes in female patients with Fabry disease – A systematic literature review by a European panel of experts

•This article presents a systematic review of the available clinical evidence on ERT in adult female Fabry patients•X-chromosome inactivation is too rarely studied in females, but likely impacts assessment, monitoring, and timing of ERT•ERT significantly reduces plasma and urine globotriaosylceramide levels and improves cardiac geometry and quality of life•Data on the effects of ERT on nervous system, gastrointestinal, and pain outcomes are insufficient to draw conclusions•More female-specific clinical studies and population-specific guidelines on the treatment of Fabry patients are warranted