Curr Health Sci J, vol. 45, no. 3, 2019

Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients

[Original Paper]

S. MILITARU (1,2), R. ADAM (2,3), G. ISMAIL (3,4), E. RUSU (3,4), A. DULAMEA (3,4), R. JURCUT (2,3)

1) University of Medicine and Pharmacy of Craiova 2) Expert Center for Rare Cardiovascular Genetic Diseases, 3rd Cardiology Department, Emergency Institute for Cardiovascular Diseases “Prof Dr. C.C. Iliescu”, Bucharest 3) “Carol Davila” University of Medicine and Pharmacy, Bucharest 4) Fundeni Clinical Institute


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.

Fabry disease, Genetic disease, Lysosomal disease

Sebastian Militaru, Expert Center for Rare Genetic Cardiovascular Diseases, 3rd Cardiology Department, "C. C. Iliescu" Emergency Institute for Cardiovascular Diseases, Sos. Fundeni 258, 022322 Bucharest, Romania, e-mail:

DOI 10.12865/CHSJ.45.03.04 - Download PDF