SP024
PREFINE: RESULTS OF A SPANISH SCREENING FOR FABRY DISEASE IN 10,000 PATIENTS IN DIALYSIS

INTRODUCTION AND AIMS: The observed prevalence of Fabry disease (FD) in hemodialysis ranges from 0.11-1.17%(Kolter & Sandhoff. 2006 Biochim Biophys Acta). The largest FD screening in dialysis patients was carried out in 8,547 patients in Japan showing a prevalence of 0.04% (Saito et al. 2016 Clin Exp Nephrol). In a previous Spanish study, 3,650 subjects in hemodialysis were screened with a FD prevalence as 0.30% (Herrera et al. 2014 Clin Nephrol). The aim of PrEFiNe project is to establish the prevalence of FD in Spanish dialysis patients.

METHODS: To establish the prevalence of FD in dialysis (peritoneal and hemodialysis) patients, 202 centers and 164 Spanish nephrologists were included in this study. All subjects in dialysis who signed the informed consent were screened using DBS kits (Centogene®, Germany). Men were screened by α-galactosidase A activity followed by genetic diagnosis and biomarker analysis. Women were screened by GLA gene sequencing, followed by the determination of biomarkers.

RESULTS: The dialysis study has been finished with more than 10,000 patients included. By September 2017, results from 9,400 were available (64.1% males; 67.6 [16-97] years old), 5,313 of them had enzymatic results and 5,092 had genetic test results. GLA sequencing was performed in all female and 36% of males. Ninety-nine subjects have been identified as possibly hemizygotes or heterozygotes for FD leading to a prevalence of 1.05 % of variants related to FD. However, 95 of these patients were carriers of Variants of Uncertain Significance (VUS): p.Asp313Tyr, p.Ser126Gly, p.Ala143Thr, p.Arg118Cys, p.Arg143Thr, p.Asp83Asn. Only 4 subjects (prevalence of 0.03%) were considered clearly as FD patients by identifying the following pathological variants: p.Ser238Asn, p.Arg227X, p.Arg112Cys and p.Trp349X as well as lyso-Gb3 levels above the normal range.

CONCLUSIONS: This project has improved the diagnosis of FD among Nephrology in Spain being the largest study to assess the real prevalence of FD in patients in dialysis. This study has also shown the overestimation of FD prevalence in renal population by the consideration of VUS as causal of FD.