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Cerebral hemodynamics and endothelial function in patients with Fabry disease
Tomás Segura1, Oscar Ayo-Martín, Isabel Gómez-Fernandez
1Department of Neurology, Hospital General Universitario de Albacete, C/Hermanos Falcó S/N, Albacete 02006, Spain. tsmtsm08@yahoo.es.
Insights
Cerebral hemodynamics and vascular remodeling are normal in Fabry disease. However, elevated plasma levels of endothelial biomarkers like soluble VCAM-1 suggest potential vascular dysfunction in patients with Fabry disease.
Area of Science:
- Neurology
- Vascular Biology
- Genetics
Background:
- Fabry disease is associated with cerebral vasculopathy.
- Potential mechanisms include altered cerebral blood flow, vascular remodeling, and endothelial dysfunction.
Purpose of the Study:
- To evaluate cerebral hemodynamics, vascular remodeling, and endothelial function in Fabry disease patients.
- To compare these parameters with healthy controls.
Main Methods:
- Investigated 10 Fabry patients and 17 healthy controls.
- Used Transcranial Doppler for cerebral blood flow velocity and reactivity.
- Measured intima-media thickness, flow-mediated dilation, and serum biomarkers (VCAM-1, TNF-α, CRP, IL-6).
Main Results:
- No significant differences in cerebral hemodynamics, intima-media thickness, or flow-mediated dilation were found.
- Fabry patients showed a trend towards lower IL-6 and higher TNF-α and hs-CRP levels.
- Significantly higher plasma soluble VCAM-1 levels were observed in Fabry patients (p = 0.02).
Conclusions:
- Cerebral hemodynamics and vascular remodeling appear unaffected in this sample of Fabry disease patients.
- Elevated plasma endothelial biomarkers, particularly soluble VCAM-1, are the most significant indicators of potential vascular dysfunction in Fabry disease.
Background:
Cerebral 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.
Methods:
Cerebral 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.
Results:
No 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).
Conclusions:
In 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.
