Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients.
Fabry disease
Genetic disease
Lysosomal disease
Journal
Current health sciences journal
ISSN: 2067-0656
Titre abrégé: Curr Health Sci J
Pays: Romania
ID NLM: 101597164
Informations de publication
Date de publication:
Historique:
received:
11
08
2019
accepted:
17
09
2019
entrez:
12
2
2020
pubmed:
12
2
2020
medline:
12
2
2020
Statut:
ppublish
Résumé
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. 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. 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. 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.
Sections du résumé
BACKGROUND
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
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
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
CONCLUSIONS
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.
Identifiants
pubmed: 32042454
doi: 10.12865/CHSJ.45.03.04
pii: 2019.03.04
pmc: PMC6993771
doi:
Types de publication
Case Reports
Langues
eng
Pagination
272-277Informations de copyright
Copyright © 2019, Medical University Publishing House Craiova.
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