Mahir COŞKUN, Yasemin Usul SOYORAL, Murat ALAY, Azad DUMAN, Beril KARATAŞ, Cebrail KARACA
Van Medical Journal - 2026;33(4):473-478
Introduction: Fabry disease is a rare X -linked lysosomal storage disorder caused by a deficiency of the alpha -galactosidase A enzyme. Screening for Fabry disease in haemodialysis patients is important for both extrarenal protection a nd family screening. The aim of this study was to determine the prevalence of Fabry disease in an unselected haemodialysis population in Van using current genetic methods and strict variant interpretation. Materials and Methods: This cross -sectional study included 301 haemodialysis patients followed at 12 dialysis centres in Van province and its districts. The GLA gene was analysed in all patients using next -generation sequencing. The identified variants were evaluated according to ACMG criteria to distinguish pathogenic variants from variants of uncertain significance. Demographic and clinical data were obtained from patient records and electronic records of the dialysis centres. Results: The mean age of the patients was 51.9 +/- 16.0 years, and 51.8% were male. The prevalence of diabetes was 37.9%, and that of hypertension was 63.5%. No pathogenic or likely pathogenic variants were detected in any patient during GLA gene analysis. Variants/polymorphisms of uncertain clinical significance were observed in four patients (1.3%); however, they did not meet criteria for pathogenicity based on ACMG classification and available clinical data. Discussion and Conclusion: In our study, the observed prevalence of genetically confirmed Fabry disease was 0% (0/301; exact 9 5% CI: 0-1.22%). This result suggests that, in unselected haemodialysis populations and when strict genetic classification is applied, the true prevalence may be lower than previously reported. No genetically confirmed cases of Fabry disease were detected in haemodialysis patients in Van province using NGS -based screening. Current molecular approaches and careful variant interpretation appear to be critical in preventing overdiagnosis and in avoiding the misclassification of clinically insignificant variants in dialysis populations.
