Cerebral Hemodynamic Changes to Transcranial Doppler in Asymptomatic Patients with Fabry's Disease

Carla Vagli1, Francesco Fisicaro2, Luisa Vinciguerra3

  • 1Department of Medical and Surgical Sciences and Advanced Technologies, University of Catania, Via Santa Sofia 78, 95123 Catania, Italy.

Brain Sciences
|August 19, 2020
PubMed

Insights

Asymptomatic Fabry's disease (FD) patients show altered posterior circulation blood flow velocity. Transcranial Doppler sonography (TCD) may detect preclinical neurovascular changes in FD, aiding management.

Area of Science:

  • Neurology
  • Vascular Medicine
  • Medical Imaging

Background:

  • Fabry disease (FD) presents a spectrum of clinical manifestations, including cerebrovascular disease, predominantly in the posterior circulation.
  • Limited and contradictory research exists on cerebral blood flow (CBF) velocity in asymptomatic FD (aFD) using transcranial Doppler sonography (TCD).

Purpose of the Study:

  • To evaluate TCD findings in aFD subjects.
  • To identify potential preclinical changes in CBF velocity within the posterior circulation of aFD patients.

Main Methods:

  • 30 aFD subjects and 28 healthy controls were assessed.
  • Transcranial Doppler sonography (TCD) measured blood flow velocity and resistance indices in the middle cerebral artery (MCA) and basilar artery (BA).
  • Cerebral vasomotor reactivity (CVR) was evaluated from the MCA.

Main Results:

  • No significant differences in MCA blood flow velocity or CVR were observed between aFD subjects and controls.
  • aFD subjects exhibited higher mean blood flow velocity and lower resistance index in the basilar artery (BA) compared to controls.
  • No correlation was found between BA-derived TCD parameters and lyso-globotriaosylceramide levels.

Conclusions:

  • Asymptomatic FD patients demonstrate altered CBF velocity in the posterior circulation.
  • TCD may enable preclinical detection of neurovascular involvement in FD.
  • Early identification can facilitate management and prevention of cerebrovascular complications.
Abstract