Prevalence of Fabry's disease within hemodialysis patients in Spain

Aims: To identify patients with Fabry's disease (FD) within patients with kidney dysfunction, submitted to hemodialysis. Subjects and methods: Patients under hemodialysis were screened using a combined enzymatic a-Gal A assay and dried blood spot samples to determine GLA genotype. Results: A total of 3,650 samples (18.5% of all patients under hemodialysis in Spain) were tested and 11 new unrelated FD patients (4 males and 7 females) were diagnosed. 66 relatives of 11 patients were tested and 23 new FD patients were identified. This study allowed the diagnosis of 34 FD patients. Among the 11 unrelated FD patients, 5 presented the same R118C mutation and one novel mutation was detected: D109G. Conclusions: This study reveals the need for screening for FD in all patients under hemodialysis for unknown causes and indicates that the incidence and prevalence of FD are underestimated so far.