Author/Editor		Cokan Vujkovac, Andreja; Vujkovac, Bojan; Novaković, Srdjan; Števanec, Milan; Šabovič, Mišo
Title		Characteristics of vascular phenotype in fabry patients
Type		članek
Publication year		2020
Volume		str. 1-8
ISSN		1940-1574 - Angiology
Language		eng
Abstract		Fabry disease is a rare X-linked lysosomal disorder. Alpha-galactosidase A deficiency caused by mutation leads to accumulation of glycosphingolipids predominantly in endothelial cells, leading to impairment of vascular wall morphology and function. We assessed vascular wall hypertrophy (carotid artery intima-media thickness, cIMT), endothelial function (brachial artery flow-mediated dilation, FMD), presence of atherosclerotic plaques in the carotid and femoral arteries, and levels of endothelial adhesion and inflammatory biomarkers in 33 Fabry patients compared with 66 healthy matched controls. Fabry patients had thicker cIMT (0.07 % 0.02 vs 0.06 % 0.02 cm; P = .021), as well as dilated common carotid arteries (0.80 % 0.12 vs 0.70 % 0.06 cm; P < .001), and aortic annulus than controls (3.07 % 0.48 vs 2.7 % 0.48 cm; P = .001). Flow-mediated dilation was reduced (4.48 % 8.80 vs 10.67 % 8.72%; P = .001) and atherosclerotic plaques were less present in Fabry patients (9.10% vs 43.94%; P < .001). Vascular cell adhesion molecule-1, interleukin-6, tumor necrosis factor %, and high-sensitivity CRP were significantly higher and E-selectin lower in Fabry patients. Our results suggest that a complex vascular phenotype is present in Fabry patients. This represents a challenge for further research that could have important clinical applications.
Keywords		Fabryjeva bolezen vaskularna patologija ateroskleroza vnetja Fabry disease vasculopathy atherosclerosis inflammation