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CASE REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1415906
This article is part of the Research Topic Rare Diseases Research and Diagnosis in Low- and Middle-Income Countries View all 34 articles

First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis

Provisionally accepted
Nikola Gjorgjievski Nikola Gjorgjievski 1,2*Vlatko Karanfilovski Vlatko Karanfilovski 1,2Todor Arsov Todor Arsov 3Pavlina Dzekova Pavlina Dzekova 1,2Galisna S. Andreevska Galisna S. Andreevska 1,2Gjulshen Selim Gjulshen Selim 1,2Petar Dejanov Petar Dejanov 1,2Vasilena Jordanova Vasilena Jordanova 4Ivelina Marinova Ivelina Marinova 4Emil Paskalev Emil Paskalev 4Igor G. Nikolov Igor G. Nikolov 1,2
  • 1 Faculty of Medicine, Saints Cyril and Methodius University of Skopje, Skopje, North Macedonia
  • 2 Other, Skopje, North Macedonia
  • 3 Faculty of Medical Sciences, Goce Delcev University, Stip, North Macedonia
  • 4 Other, Sofia, Bulgaria

The final, formatted version of the article will be published soon.

    Introduction: Fabry disease is a rare X-linked lysosomal storage disease caused by αgalactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body, triggering inflammation and fibrosis.We present the first familial case with Fabry Disease in North Macedonia identified based on the clinical manifestations, and confirmed with enzyme, biomarker, and genetic tests. The index case in the family was a 43-year-old male undergoing hemodialysis therapy. He has had a chronic burning uncontrolled limb pain since childhood, intermittent abdominal cramps, anhidrosis, and hypertension. The constellation of the clinical presentation accompanied by similar symptoms in close family members prompted enzyme, biomarker, and genetic analyses for Fabry disease. Genetic testing identified a known pathogenic GLA missense variant c.443G>A or p.(Ser148Asn) in a hemizygous state. Subsequent family studies identified another hemizygous male and five heterozygous female carriers affected with this X-linked disorder.We report the identification of the first familial case with Fabry disease in North Macedonia and describe the phenotype associated with the Ser148Asn GLA variant. The higher awareness of this rare disease linked to continuous medical education is crucial for timely diagnosis and treatment.

    Keywords: Fabry Disease, Chronic Kidney Disease, hemodialysis, α-galactosidase A, X-linked disorder

    Received: 11 Apr 2024; Accepted: 18 Jul 2024.

    Copyright: © 2024 Gjorgjievski, Karanfilovski, Arsov, Dzekova, Andreevska, Selim, Dejanov, Jordanova, Marinova, Paskalev and Nikolov. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Nikola Gjorgjievski, Faculty of Medicine, Saints Cyril and Methodius University of Skopje, Skopje, North Macedonia

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