Fabry Disease in Hemodialysis Patients in Southern Brazil: Prevalence Study and Clinical Report

Abstract

Although the prevalence of Fabry disease was very low in our study (0.36%), routine screening of male hemodialysis patients would enable earlier identification of many other affected relatives in their families who might benefit from specific clinical treatment.

Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening

“…When comparing these data to the other 3 studies performed in other Brazilian regions, the prevalence detected in the present work was the lowest, 0.12 versus 0.36%, 0.52 and 0.57% [20,21,22]. However, it should be noted that in these studies, genetic testing was not used to confirm the diagnosis suggested by a low α-Gal A enzyme activity in plasma, DBS or in leukocytes.…”

“…Differences in enrollment could also affect the differences in prevalence across the studies as some studies exclude patients with known or presumed CKD diagnosis or those with no characteristic FD signs or symptoms [22,31]. In fact, current guidelines recommend assaying the dialysis population only in men less than 50 years of age and with no confirmed etiology of renal disease [32].…”

“…To the best of our knowledge, this is the largest Brazilian study investigating FD prevalence in male patients under HD [16,17,18,19,20,21,22]. In total, 2,583 male patients were screened from 23 HD centers from a single state in Brazil.…”

Fabry Nephropathy: An Evidence-Based Narrative Review

“…Based on consistently low α-Gal A activity in plasma and leucocytes, and the results of molecular analysis, five patients (4/1521 males, 0.26%; 1/1849 females, 0.05%) could be newly diagnosed with FD. The same approaches have resulted in prevalences of 0.36% in the Southern Brazilian State [25], 0.23% in a Chinese population [26], 0.3-0.55% in Spain [27,28], 0.17% in Turkey [29], and 0.02% in Japan [30].…”

Renal Aspects and Enzyme Replacement Therapy of Fabry Disease

“…Previous reports about the prevalence of end stage FD males on dialysis was estimated between 0.22% and 1.2% in several populations (Nakao et al, 2003;Linthorst et al, 2003;Kotamko et al, 2004;Thadhani et al, 2002;Grünfeld et al, 2003;Mehta et al, 2009). Three similar studies explain the prevalence of FD among end-stage renal disease (ESRD) males in Brazilian population Biagini et al, 2007;Porsch et al, 2008). All studies screened about 30-40% of total patients who were submitted to dialysis treatment in three different Brazilian States: Rio de Janeiro (RJ), Paraná (PR) and Rio Grande do Sul (RS).…”