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Structural and functional changes in peripheral vasculature of Fabry patients
Author(s) -
Kalliokoski Riikka J.,
Kalliokoski Kari K.,
Penttinen Maila,
Kantola Ilkka,
Leino Aila,
Viikari Jorma S.,
Simell Olli,
Nuutila Pirjo,
Raitakari Olli T.
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0340-x
Subject(s) - medicine , fabry disease , brachial artery , cardiology , peripheral , aorta , intima media thickness , blood pressure , vascular disease , abdominal aorta , fabry's disease , disease , carotid arteries
Summary Objective : Fabry disease is a lysosomal storage disorder due to deficient α‐galactosidase A activity, which leads to glycosphingolipid accumulation especially in vascular smooth‐muscle and endothelial cells. Little is known about the effects of Fabry disease on peripheral artery function and structure. Therefore, we aimed to further characterize the peripheral vascular structural and functional changes in Fabry disease. Methods and results : We measured structural and functional vascular parameters, including intima‐media thickness (IMT) of brachial and carotid arteries and abdominal aorta, carotid and aortic compliance, and brachial artery flow‐mediated dilatation (FMD) in 17 Fabry patients and 34 healthy controls matched for age, sex and smoking. Carotid IMT (0.64 ± 0.15 vs 0.57 ± 0.12 mm), brachial IMT (1.02 ± 0.25 vs 0.74 ± 0.18 mm), and aortic IMT (0.31 ± 0.09 vs 0.26 ± 0.04 mm) were significantly increased, and brachial FMD was significantly impaired (6.3 ± 5.0 vs 9.7 ± 3.9%) in Fabry patients compared to healthy controls ( p < 0.05 in all comparisons after adjustments for age, LDL‐cholesterol, and systolic blood pressure). No differences were observed in arterial compliance between the groups. Conclusions : These data suggest that Fabry disease affects arterial function and structure by disturbing peripheral endothelial function and promoting intima‐media thickening.