Avaliação dos mecanismos de regulação microvascular cerebral na doença de Fabry

Abstract

Fabry disease (FD) causes cerebrovascular disease (CVD) even if asymptomatic, being important to identify non-invasive methods to assess and monitor the disease. We aimed to evaluate cerebral autoregulation (CA), vasoreactivity (VR) and neurovascular coupling (NVC) in FD patients. Ten adult patients with classic phenotype FD, without expression of CVD, and ten healthy controls, were included. We monitored cerebral blood flow velocity (CBFV) with transcranial Doppler (TCD) in the middle and posterior cerebral arteries (PCA), blood pressure (BP), heart rate and non-invasive expired carbon dioxide (CO2). We evaluated CA by transfer function analysis of spontaneous oscillations from BP to CBFV, VR through CO2 inhalation and hyperventilation and NVC by the CBFV change to visual stimulation. TCD evaluation revealed that VR was affected in FD male patients, in PCA (0.70±0.36 vs 1.09±0.18%/mmHg CO2,p=0.002). Moreover, NVC was impaired in men (systolic overshoot 15.00±2.93 vs 28.34±6.06%, p<0.001 and mean overshoot 15.67±5.84 vs 31.62±6.17%, p<0.001). Global CA was similar between groups. Male patients with FD classic phenotype and no clinical expression of CVD showed affected VR and worse NVC. Our results support that cerebral microvascular regulation is affected in a presymptomatic phase of CVD in FD and that TCD might be useful in its monitoring.