A Two-Year Observation on the Efficacy and Safety of Enzyme Replacement Therapy in a Fabry Disease Pedigree: A Single-Center Case Series Report

Min DENG; Yinglu HAO; Min RAN; Qinglin LI; Yanping LI; Ziyang YU

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Min DENG, Yinglu HAO, Min RAN, Qinglin LI, Yanping LI, Ziyang YU. A Two-Year Observation on the Efficacy and Safety of Enzyme Replacement Therapy in a Fabry Disease Pedigree: A Single-Center Case Series Report[J]. Journal of Kunming Medical University.

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A Two-Year Observation on the Efficacy and Safety of Enzyme Replacement Therapy in a Fabry Disease Pedigree: A Single-Center Case Series Report

Department of Cardiology，The Sixth Affiliated Hospital of Kunming Medical University，Yuxi Yunnan 651300，China

Received Date: 2025-06-24
Available Online: 2026-01-24

Abstract

Abstract

Objective To assess the two-year efficacy and safety of enzyme replacement therapy （ERT） in a Fabry disease （FD） pedigree carrying the c.167G>A mutation. Methods Clinical data of four patients from a FD pedigree carrying the c.167G>A （p.Cys56Tyr） mutation in Yunnan province, between September 2022 and October 2024 were retrospectively analyzed. A comprehensive efficacy assessment was performed by comparing plasmaα-galactosidase A （α-GalA） activity, lyso-globotriaosylsphingosine （Lyso-GL-3） levels, cardiac/hepatic/renal function indices, Mainz Severity Score Index （MSSI）, and 36-Item Short Form Health Survey （SF-36） scores before and after two years of ERT. Results Following ERT, plasma Lyso-GL-3 levels and α-GalA activity decreased by 62.6% and 27.9%, respectively. Cardiac parameters showed improvement: left ventricular posterior wall thickness （LVPWT）, left ventricular mass index （LVMI） and the heart failure marker N-terminal pro-B-type natriuretic peptide （NT-proBNP） decreased, while left ventricular ejection fraction （LVEF） improved. Hepatic and renal function indices remained stable. The total MSSI score significantly decreased, and all domain scores of the SF-36 significantly increased, indicating reduced disease severity and enhanced quality of life. One patient experienced lower limb edema, which resolved with symptomatic treatment; with no serious adverse events reported. Conclusion ERT effectively reduces plasma Lyso-GL-3 levels and improve clinical symptoms in FD pedigree patients carrying the c.167G>A mutation.
- Fabry disease,
- Enzyme replacement therapy,
- Efficacy,
- Safety

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References(22)

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