Background/Aims: Evaluate the prevalence of Fabry disease in men and women with kidney disease; and observe the presence and importance of the main signs and symptoms in patients with kidney disease. Methods: A cross-sectional analysis of secondary data from a multicenter project of Clinical and Epidemiological Analysis of Fabry Disease in 854 Dialysis Centers. A total of 36,442 patients underwent the questionnaire and algorithm; of them, 28,284 were discarded for not presenting signs and symptoms of Fabry disease, while the other 8,087 submitted to blood collection and analysis. All participants signed a Free and Informed Consent Form and a questionnaire was applied. The questionnaire data were analyzed using a computerized algorithm. This program/algorithm analyzes and separates patients into: discarded, patients unlikely to have Fabry disease; suspect, patients who submitted to blood collection. The blood of suspect patients was collected on filter paper for enzyme measurement and genetic testing. A descriptive data analysis was performed and the likelihood ratio was determined. Results: The general prevalence was 0.19% and after use of algorithm was 0.87%. Although more men were screened (59.3%), the prevalence was higher in women (65.1%). The most prevalent signs and symptoms were: heart disease (60.6%), decreased or lack of sweating (42.3%), heat and cold intolerance (28.2%), and pain crises spreading throughout the body (26.8%). Conclusion: The prevalence was higher in women, and the most prevalent symptom was heart diseases.

Introduction: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation. Objectives: to evaluate the prevalence of Fabry disease (FD) mutations, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with FD during a previously conducted study, named “Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil”. Methods: a cross-sectional study was carried out, and data was collected by interviewing the relatives of patients enrolled in the Brazil Fabry Kidney Project and blood tests for both Gb3 dosage and genetic testing. Results: Among 1214 interviewed relatives, 115 (9.47%) were diagnosed with FD, with a predominance of women (66.10%). The most prevalent comorbidities were rheumatologic conditions and systemic hypertension (1.7% each), followed by heart, neurological, cerebrovascular diseases, and depression in 0.9% of individuals. Intolerance to physical exercise and tiredness were the most observed symptoms (1.7%), followed by periodic fever, intolerance to heat or cold, diffuse pain, burn sensation or numbness in hands and feet, reduced or absent sweating, as well as abdominal pain after meals in 0.9%. Conclusion: We found a prevalence of Fabry disease in 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports. The screening of family members of FD patients is important, since it can lead to early diagnosis and treatment, thus allowing better quality of life and improved clinical outcomes for these individuals.

Background and Aims Fabry disease is a chronic, progressive and multi-systemic hereditary condition, related to a Xq22 mutation in X chromosome, which results in deficiency of acid alpha-galactosidase, hence reduced capacity of globotriaosylceramide (Gb3) degradation. Gb3 accumulates in lysosomes throughout virtually every organ, thus causing considerable morbidity and mortality. Objectives: To evaluate the types of Fabry disease mutations and enzyme levels of Alpha Galactosidase and Lyso Gb3 in a multicenter study; the RIM FABRY BRASIL PROJECT. Method We conducted a transversal study that consists of data analysis secondary to the multicenter project: Clinical and Epidemiological Analysis of Fabry's Disease in Dialysis Centers in Brazil, “PROJETO RIM FABRY BRASIL”. Included 854 dialysis centers throughout Brazil and 75059 individuals screened using a questionnaire and signing an Informed Consent Form. The data were entered into a computer program (algorithm) that filters the possible carriers of Fabry's disease. The program / algorithm discarded those who probably did not have Fabry's disease and sent blood suspects to filter enzyme dosage and genetic testing of those suspected of the disease. Results 75059 individuals from the RIM FABRY BRASIL project were screened, where 58.37% were men and 41.54% women. 408 individuals with mutations for Fabry disease were identified, including patients with kidney and Family history of the disease, 34.6% men and 65.4% women with a mean age of 42.7 years. 47 different mutations were identified, with a higher prevalence of c.352C> T p.Arg118Cys (24.8%), followed by c.376A> G p.Ser126Gly (13.1%), c.1102G> A p.Ala368Thr ( 7.8%), c.937G> T p.Asp313Tyr (7.8%), c.870G> C p.Met290Ile (7.3%). Alfa GalA dosage was performed in 120 men, with 90% of them showing decreased enzyme and Lyso Gb3 dosage of 320 individuals, (36.2% men and 63.8% women) 72.5% normal and 27.5% increased. Conclusion The most frequent mutations were: c.352C> T p.Arg118Cys, followed by c.376A> G p.Ser126Gly, c.1102G> A p.Ala368Thr, c.937G> T p.Asp313Tyr, c.870G> C p.Met290Ile. 90% of men showed a decrease in the enzyme Alpha GalA and 27.5% of individuals had increased Lyso Gb3.