From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia—a case series - Scorecard - 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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Clinical Scorecard: Initial Insights into Enzyme Replacement Therapy for Fabry Disease in North Macedonia: A Case Series from Diagnosis to Treatment

At a Glance

CategoryDetail
Condition
Key MechanismsDeficiency of α-galactosidase A leading to accumulation of globotriaosylceramide and Lyso-Gb3.
Target PopulationPatients with advanced Fabry disease post-kidney transplantation.
Care SettingUniversity Clinic for Nephrology, Skopje, North Macedonia.

Key Highlights

  • ERT with agalsidase beta and agalsidase alfa showed biochemical response.
  • Renal graft function remained stable without proteinuria.
  • Patient 1 experienced improvement in neuropathic pain and quality of life.
  • Patient 2 had neurological manifestations despite biochemical response.

Guideline-Based Recommendations

Diagnosis

  • Genetic and biochemical confirmation of Fabry disease is essential.

Management

  • Initiate ERT with agalsidase beta or agalsidase alfa based on availability.

Monitoring & Follow-up

  • Regular evaluation of plasma Lyso-Gb3 levels, renal function, cardiac imaging, and neurological assessments.

Risks

  • Limited reversibility of established organ injury.

Patient & Prescribing Data

Two adult male patients with advanced Fabry disease post-kidney transplantation.

Agalsidase beta (1 mg/kg every 2 weeks) and agalsidase alfa (0.2 mg/kg every 2 weeks) were administered.

Clinical Best Practices

    Related Resources & Content

    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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