Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound

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; P-adj -.0014), vertebral artery diameter (observed FD 3.59 +/- 0.35 mm versus controls 3.38 +/- 0.33 mm; P-adj =.0002), middle cerebral artery pulsatility index (observed FD 0.98 +/- 0.19 versus controls 0.87 +/- 0.11; P-adj <.0001), and significantly decreased CVR (observed FD 1.21 +/- 0.49 versus controls 1.35 +/- 0.38; P-adj -.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; P-adj <.0001). Conclusions-Our results suggest the presence of multiple vascular abnormalities and changes in hemodynamic parameters of cerebral arteries in patients with FD.

Automated summary

This study compared the cerebrovascular phenotype characteristics between Fabry disease patients and controls using neurosonology. The results showed that Fabry disease patients had more vascular abnormalities and changes in hemodynamic parameters of cerebral arteries compared to the control group.