From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia—a case series - Takeaways - MDSpire

From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia—a case series

  • By

  • Vlatko Karanfilovski

  • Igor G. Nikolov

  • Pavlina Dzekova Vidimliski

  • Svetlana Krstevska Balkanov

  • Galina Severova

  • Ana Stojanoska

  • Nikola Gjorgjievski

  • May 29, 2026

  • 0 min

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  • 1

    Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to organ damage.

  • 2

    Enzyme replacement therapy (ERT) is crucial for managing Fabry disease, aiming to reduce biochemical burden and stabilize organ function.

  • 3

    This study presents North Macedonia's first experience with ERT in two male patients with advanced Fabry disease post-kidney transplantation.

  • 4

    Both patients showed significant reductions in Lyso-Gb3 levels, stable renal function, and varied clinical responses to ERT.

  • 5

    Persistent neurological impairment in one patient despite biochemical improvement highlights the need for early diagnosis and treatment.

Original Source(s)

From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia—a case series

  • by Vlatko Karanfilovski, Igor G. Nikolov, Pavlina Dzekova Vidimliski, Svetlana Krstevska Balkanov, Galina Severova, Ana Stojanoska, Nikola Gjorgjievski

  • May 29, 2026

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