Screening of Fabry Disease of patients in renal replacement therapy in a population from Lazio (Italy)

- OBJECTIVE: Fabry's disease (FD) is a genetic disorder of lysosomal storage char-acterized by the intralysosomal accumulation of globotriaosylceramide (Gb3). This genetic muta-tion causes a total or partial deficit of the a-galac-tosidase (GAL) enzyme activity. FD has an inci-dence of 1:40000-60000 born alive. Its prevalence is higher in specific pathological conditions like chronic kidney disease (CKD). The aim of this study was to evaluate the FD prevalence in Italian renal replacement therapy (RRT) patients from Lazio region. PATIENTS AND METHODS: 485 patients in RRT (hemodialysis, peritoneal dialysis, and kid-ney transplantation) were recruited. The screen-ing test was performed on venous blood sample. The latter was analyzed using specific FD diag-nostic kit, based on the analysis of dried blood spots on filter paper. RESULTS: We found 3 cases of positivity to FD (1 female and 2 males). In addition, 1 male patient was identified with biochemical alter-ation indicative of GAL enzyme deficiency with a genetic variant of the GLA gene of unknown clinical significance. The FD prevalence in our population was 0.60% (1 case out 163), it rises to 0.80% (1 case out of 122) if the genetic vari-ant of unknown clinical significance is consid-ered. Comparing the three subpopulations, we observed a statistically significant difference in GAL activity in transplanted patients compared to dialysis patients (p<0.001). CONCLUSIONS: Considering the presence of an enzyme replacement therapy able to modify FD clinical history, it is essential to try to imple-ment FD early diagnoses. However, the screen-ing is too expensive to be extended on large scale, due to the low prevalence of the patholo-gy. The screening should be performed on high-risk populations.