Structural and functional changes in peripheral vasculature of Fabry patients

• Published in: Journal of inherited metabolic disease 2006-10, Vol.29 (5), p.660-666
• Main Authors: Kalliokoski, Riikka J., Kalliokoski, Kari K., Penttinen, Maila, Kantola, Ilkka, Leino, Aila, Viikari, Jorma S., Simell, Olli, Nuutila, Pirjo, Raitakari, Olli T.
• Format: Article
• Language: English
• Subjects: Adult; alpha-Galactosidase - metabolism; Biological and medical sciences; Case-Control Studies; Ceramides - metabolism; Child, Preschool; Endothelium, Vascular - pathology; Fabry Disease - metabolism; Fabry Disease - pathology; Female; General aspects; Glycosphingolipids - metabolism; Humans; Infant; Male; Medical genetics; Medical sciences; Metabolic diseases; Middle Aged; Myocytes, Smooth Muscle - metabolism; Tunica Intima - pathology; Tunica Media - pathology
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-006-0340-x

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.