Transcranial Doppler study in asymptomatic Fabry's disease

Background And Aims Cerebrovascular involvement in Fabry disease (FD) include ischemic/hemorrhagic stroke and white matter lesions. Dolichoectasia is also frequently found and it is likely due to a 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. 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) were age-matched with 12 healthy controls (median age 38.5 years). 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 breath-holding was also evaluated. Brain magnetic resonance imaging (MRI), including angiography scan was performed in all patients. Results Brain MRI was normal in all patients. No statistically difference was found between the two groups in all TCD parameters obtained from MCA. A 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. Conclusions 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.