Impact of enzyme replacement therapy on hearing sensitivity in Fabry disease: A systematic review.

AIM: This review systematically evaluated the impact of enzyme replacement therapy (ERT) on audiological outcomes in Fabry disease, focusing on the nature of audiological findings, therapeutic effects on hearing function, and factors influencing treatment response.

METHOD: The systematic review was conducted following PRISMA 2020 guidelines. Literature searches were performed across PubMed, PubMed Central, ScienceDirect, J-Gate, ProQuest, Web of Science, EBSCO, and Google Scholar up to 2025. Reference lists of eligible studies were also manually screened to identify additional relevant publications on audiological outcomes in Fabry disease patients undergoing ERT.

RESULTS

Ten studies comprising 404 patients were included. Across studies, ERT generally stabilized hearing thresholds, with modest improvements reported in some cases, particularly when therapy was initiated early. Factors such as disease stage and timing of therapy influenced the extent of auditory benefit.

CONCLUSION

ERT appears effective in preventing further auditory deterioration in Fabry disease, with potential for modest improvement when initiated early. Evidence is limited by variability in study designs, small sample sizes, and challenges inherent to rare conditions, including difficulties in longitudinally tracking patients across treatment timelines.