RESUMO
BACKGROUND: Fabry disease (FD) is a rare genetic lysosomal disease with an estimated prevalence of 1:100000. Mutations on the GLA gene lead to alpha-galactosidase deficiency and multiorgan involvement due to sphingolipid accumulation. Our aim was to present and analyze the demographic and clinical characteristics of the Fabry patients in Romania. METHODS: All known Fabry patients in Romania between 2015-2018 were prospectively included in the study. Data on personal history, family history and clinical parameters were collected and statistically analyzed. RESULTS: The study included 42 patients with a mean age of 47±15 years, of which 19 (45%) were men and 23 (55%) women. Women were significantly older (52±15 years vs. 40±13 years, p=0.006) and presented similar prevalence of cardiac, renal, neurologic, ophthalmologic and otologic burden. The majority of patients presented organ damage, most prevalent being cardiac (48%), cutaneous (45%) and neurologic (52%) involvements. There were 20 families in total, comprising on average of 2.1 members each. Of the 20 families, only two had the same pathogenic GLA mutation. CONCLUSION: FD patients in our country show a significant degree of multiorgan involvement with important psychological and social impact on the patients and their families. Women with Fabry disease show similar disease burden as men, but at a later age.
