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Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound
Petra Rekova1, Gabriela Dostalova2, Daniel Rob2
1Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Insights
Fabry disease (FD) patients show significant cerebrovascular abnormalities, including altered artery dimensions and impaired cerebral vasoreactivity (CVR). Neurosonology reveals these vascular changes, highlighting the need for further investigation into FD
Area of Science:
- Vascular Medicine
- Neurology
- Genetics
Background:
- Fabry disease (FD) is a rare X-linked lysosomal storage disorder.
- Neurological symptoms in FD can be linked to vascular impairment.
- Noninvasive vascular sonography is crucial for assessing arterial health.
Purpose of the Study:
- To investigate cerebrovascular phenotype characteristics in FD patients.
- To compare neurosonographic findings in FD patients versus healthy controls.
- To identify vascular and hemodynamic parameter differences using ultrasonography.
Main Methods:
- A single-center, cross-sectional study involving 65 FD patients and 65 matched controls.
- Ultrasonography was used to measure carotid intima-media thickness, vertebral artery diameter, and middle cerebral artery pulsatility index.
- Cerebral vasoreactivity (CVR) and hemodynamic parameters were assessed, with statistical analyses performed for group comparisons.
Main Results:
- FD patients exhibited significantly increased carotid artery intima-media thickness and vertebral artery diameter compared to controls.
- A higher middle cerebral artery pulsatility index and significantly decreased cerebral vasoreactivity (CVR) were observed in FD patients.
- FD patients also demonstrated significantly more variable CVR compared to the control group.
Conclusions:
- The study indicates the presence of multiple vascular abnormalities in FD patients.
- Significant alterations in hemodynamic parameters of cerebral arteries are evident in individuals with FD.
- Neurosonology effectively highlights these cerebrovascular differences between FD patients and controls.
Objectives:
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with variable phenotypes, including neurological symptoms. These can be influenced by vascular impairment. Extracranial and transcranial vascular sonography is an effective and noninvasive method for measuring arterial structures and blood flow. The study aims to investigate cerebrovascular phenotype characteristics in FD patients compared to controls using neurosonology.
Methods:
This is a single-center, cross-sectional study of 130 subjects-65 patients (38 females), with genetically confirmed FD, and 65 sex- and age-matched controls. Using ultrasonography, we measured structural and hemodynamic parameters, including distal common carotid artery intima-media thickness, inner vertebral artery diameter, resting blood flow velocity, pulsatility index, and cerebral vasoreactivity (CVR) in the middle cerebral artery. To assess differences between FD and controls and to identify factors influencing investigated outcomes, unadjusted and adjusted regression analyses were performed.
Results:
In comparison to sex- and age-matched controls, FD patients displayed significantly increased carotid artery intima-media thickness (observed FD 0.69 ± 0.13 mm versus controls 0.63 ± 0.12 mm; Padj = .0014), vertebral artery diameter (observed FD 3.59 ± 0.35 mm versus controls 3.38 ± 0.33 mm; Padj = .0002), middle cerebral artery pulsatility index (observed FD 0.98 ± 0.19 versus controls 0.87 ± 0.11; Padj < .0001), and significantly decreased CVR (observed FD 1.21 ± 0.49 versus controls 1.35 ± 0.38; Padj = .0409), when adjusted by age, BMI, and sex. Additionally, FD patients had significantly more variable CVR (0.48 ± 0.25 versus 0.21 ± 0.14; Padj < .0001).
Conclusions:
Our results suggest the presence of multiple vascular abnormalities and changes in hemodynamic parameters of cerebral arteries in patients with FD.
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