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Clinical Manifestations

Segura T, Ayo-Martín O, Gómez-Fernandez I et al.

Hospital General Universitario de Albacete, Albacete, Spain.

 BMC Neurol 2013;13:170.

Editor’s note: Cerebral vasculopathy is a common complication of Fabry disease (FD), and cerebrovascular events have been reported to occur in >25% of patients (Stroke 2010;41:863–8). In certain individuals, stroke may even be the first manifestation of FD to occur (Lancet 2005;366:1794–6). However, to date, no early marker of cerebrovascular risk has been identified in these patients, although altered cerebral blood flow, vascular remodeling, and impairment of endothelial function have all been hypothesized to play a role. Therefore, the current authors evaluated these three possibilities in patients with FD compared with healthy controls.

A total of 10 FD patients (four men, six women; age range 18–61 years) and 17 age- and gender-matched healthy volunteers were enrolled. Brain hemodynamics were assessed by means of transcranial Doppler, and the presence of vascular remodeling was determined by measuring the carotid intima–media thickness (cIMT). Endothelial function was estimated by means of the flow-mediated brachial vasodilation test and by measuring serum levels of biomarkers related to inflammation and endothelial dysfunction.

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