From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia—a case series - Summary - MDSpire
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From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia—a case series
To describe the first national experience with enzyme replacement therapy (ERT) for Fabry disease in North Macedonia and evaluate clinical and biochemical outcomes.
Key Findings:
Both patients showed substantial reductions in Lyso-Gb3 levels, indicating a robust biochemical response.
Renal graft function remained stable without proteinuria, and no progression of cardiac involvement was observed.
Patient 1 experienced significant and sustained improvement in neuropathic pain and quality of life, while Patient 2 had persistent neurological issues despite biochemical improvements.
Interpretation:
The findings indicate that ERT is well-tolerated and can reduce biochemical disease burden and stabilize organ function in Fabry disease, but neurological impairment may persist despite treatment.
Limitations:
The study is limited to a small sample size of two patients, which may affect the generalizability of the findings.
Long-term outcomes and broader applicability of findings are not established.
Conclusion:
The study highlights the need for further research on the timing of ERT initiation in managing Fabry disease.
by Vlatko Karanfilovski, Igor G. Nikolov, Pavlina Dzekova Vidimliski, Svetlana Krstevska Balkanov, Galina Severova, Ana Stojanoska, Nikola Gjorgjievski
