Abstract
BackgroundCerebral vasculopathy have been described in Fabry disease, in which altered cerebral blood flow, vascular remodelling or impairment of endothelial function could be involved. Our study aims to evaluate these three possibilities in a group of Fabry patients, and compare it to healthy controls.MethodsCerebral hemodynamics, vascular remodelling and systemic endothelial function were investigated in 10 Fabry patients and compared to data from 17 healthy controls. Transcranial Doppler was used to study blood flow velocity of intracranial arteries and cerebral vasomotor reactivity. For the study of vascular remodelling and endothelial function, intima-media thickness of common carotid arteries, flow-mediated dilation in brachial artery and serum levels of soluble VCAM-1, TNF-α, high-sensitive CRP and IL-6 were measured. Differences between groups were evaluated using appropriate tests.ResultsNo relevant differences were observed in cerebral hemodynamic parameters, intima-media thickness or flow-mediated dilation. There was a trend for low serum levels of IL-6 and high serum levels of TNF-α and high-sensitive CRP in Fabry patients; plasma concentrations of soluble VCAM-1 were significantly higher in Fabry disease patients than in healthy volunteers (p = 0.02).ConclusionsIn our sample, we did not find relevant alterations of cerebral hemodynamics in Fabry disease patients. Increased levels of plasmatic endothelial biomarkers seem to be the most important feature indicative of possible vascular dysfunction in Fabry disease patients.
Highlights
Cerebral vasculopathy have been described in Fabry disease, in which altered cerebral blood flow, vascular remodelling or impairment of endothelial function could be involved
Despite its potential severity, there is currently no early marker for cerebrovascular risk that allows optimization of the treatment of patients affected by Fabry disease (FD), nor is it possible to investigate the value of enzyme replacement therapy (ERT) in reducing that risk
Brain hemodynamics No differences were observed between groups in the flow velocities of the brain arteries or in their pulsatility index (PI), nor in the anterior group neither in the posterior ones (Table 1)
Summary
Cerebral vasculopathy have been described in Fabry disease, in which altered cerebral blood flow, vascular remodelling or impairment of endothelial function could be involved. Anderson Fabry disease (FD) (OMIM 301500) is an X-linked inherited sphingolipid storage disorder caused by deficiency of lysosomal enzyme alpha-galactosidase A (GLA). This illness is characterized by progressive accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), in lysosomes in a variety of cell types, including renal cells, myocardial cells, heart valve fibrocytes, nervous system cells, and endothelial cells of blood vessels [1,2,3,4,5,6,7]. Among possible markers to cerebral impairment in FD, parameters of brain hemodynamics, with controversial results, have been studied [12,13,14,15]
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