From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia—a case series - Report - 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
Clinical Report: Initial Insights into Enzyme Replacement Therapy for Fabry Disease
Overview
This report presents the first national experience with enzyme replacement therapy (ERT) for Fabry disease in North Macedonia, involving two male patients post-kidney transplantation. Both patients showed significant biochemical responses, but clinical outcomes varied, particularly regarding neurological symptoms.
Background
Fabry disease is a rare X-linked lysosomal storage disorder that leads to severe multisystemic complications due to α-galactosidase A deficiency. Early initiation of ERT is crucial to mitigate irreversible organ damage.
Data Highlights
Patient
ERT Type
Lyso-Gb3 Reduction
Renal Function
Neurological Response
1
Agalsidase beta
Substantial
Stable
Marked improvement
2
Agalsidase alfa
Substantial
Stable
Persistent fluctuations
Key Findings
Both patients exhibited significant reductions in Lyso-Gb3 levels post-ERT.
Renal graft function remained stable without proteinuria in both cases.
No progression of cardiac involvement was observed during the study period.
Patient 1 reported marked improvement in neuropathic pain and quality of life.
Neurological impairment in Patient 2 was linked to central and peripheral nervous system involvement.
Clinical Implications
The findings highlight the importance of early diagnosis and timely initiation of ERT in Fabry disease to optimize clinical outcomes. The variability in patient responses underscores the need for personalized treatment approaches and ongoing monitoring.
Conclusion
This case series demonstrates that ERT can effectively reduce biochemical markers of Fabry disease and stabilize organ function, although neurological outcomes may remain challenging in advanced cases.
by Vlatko Karanfilovski, Igor G. Nikolov, Pavlina Dzekova Vidimliski, Svetlana Krstevska Balkanov, Galina Severova, Ana Stojanoska, Nikola Gjorgjievski
