Screening for Fabry Disease among Dialysis Patients in Brazil: Findings from the First 18 months of a Nationwide Study

Aims: To estimate the frequency of Fabry disease (FD) among kidney failure patients on dialysis in Brazil using an algorithm designed to track FD-suspected patients.

Study Design: Cross-sectional study.

Place and Duration of Study: Dialysis Centers in Brazil, from July, 2013 to December, 2014.

Methodology: A total of 25,223 dialysis patients from 188 dialysis centers spread all over the country were analyzed. All collected data were entered in a database created and maintained by DataGenno Interactive Research®. An algorithm was created to sort dialysis patients into three main groups: FD-suspected patients, FD-non suspected patients, and patients for medical analysis. Further up, FD-suspected patients were submitted to GLA gene sequencing.

Results: Out of 25,223 patients, 2,956 (11.72%) were considered FD-suspected. From FD-suspected patients, 89 (3.0%; 2.0% female, 1.0% male) were diagnosed with FD. FD-positive patients represented 0.3% (0.2% female, 0.1% male) of all analyzed patients. Average age of FD-positive patients: 37.7 years (±16.6) and of FD-negative patients: 45.1 years (±11.5). Seventeen different mutations were found in FD-positive patients. Missense mutations c.352C>T(R118C), c.1102G>A(A368T) and c.870G>C(M290I) were the most frequent (60.7% of the patients). A368T and R118C were more frequent among 30 patients with depression. Six female patients had cerebrovascular disease and A368T mutation was more frequent. A368T, R118C and M290I were more frequent in patients with heart disease. Angiokeratoma frequency (14.6%) was higher than in previous findings in the Brazilian population.

Conclusion: The natural history and frequency of FD among Brazilian dialysis patients were found, in general, according to literature. Three missense mutations were highly frequent among FD-positive patients; none of them were directly related to end-stage renal disease caused by FD. The algorithm used could be a helpful tool to identify FD.