Characteristics of Vascular Phenotype in Fabry Patients

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 alpha, 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.

Automated summary

Patients with Fabry disease exhibit thicker vascular walls and dilated common carotid arteries compared to healthy controls. However, they show reduced flow-mediated dilation and fewer atherosclerotic plaques. Inflammatory markers are significantly higher in Fabry patients, suggesting a complex vascular phenotype in this disease.