Transcranial Doppler study in asymptomatic Fabry’s disease

INTRODUCTION White matter lesions and ischemic or hemorrhagic stroke are common features of cerebrovascular involvement in Fabry’s disease (FD). Dolichoectasia is also frequently found and it is likely due to a mechanical weakening of the wall vessel secondary to glycosphingolypid deposition. Cerebral hemodynamics has been studied in FD, producing conflicting results; moreover, data in neurologically asymptomatic patients are lacking. In this study, we aimed to investigate cerebral hemodynamics by Transcranial Doppler Sonography (TCD) in asymptomatic FD patients. METHODS 14 patients with genetic diagnosis of FD (median age 36.0 years - IQR 19.8; 64.3% female) were age-matched with 12 healthy controls (median age 38.5 years - IQR 16.3; 66.7% female). Peak Systolic Blood Flow Velocity (PSV), End-Diastolic Blood Flow Velocity (EDV), Mean Blood Flow Velocity (MBFV), Pulsatility Index (PI), and Resistivity Index (RI) were recorded from the Middle Cerebral Artery (MCA) bilaterally and Basilar Artery (BA). Cerebrovascular reactivity to breathholding was also evaluated. Brain magnetic resonance imaging (MRI), including angiography scan was performed in all patients. The two groups were compared by using the Mann-Whitney test for skewed continuous data and the chi-square test for categorical variables. RESULTS Brain MRI was normal in all patients. No significant difference was found between the two groups in all TCD parameters obtained from MCA. A statistically significant difference was observed in MBFV, PI and RI recorded from BA; in particular, patients exhibited a decrease in MBFV (p= 0.030), PI (p= 0.027), and RI (p= 0.006) compared to controls. DISCUSSION AND CONCLUSION Our data support the hypothesis of a higher susceptibility of the posterior circulation to the development of a vessel disease. TCD screening may be considered as an additional tool to non-invasively probe in vivo and in real time the cerebral hemodynamic functioning even in neurologically asymptomatic FD patients.