Functional transcranial Doppler: presymptomatic changes in Fabry disease

Elsa Azevedo1, Amélia Mendes, Daniela Seixas

  • 1Department of Neurology, Hospital São João, Faculty of Medicine of University of Porto, Porto, Portugal. elsaazevedo@netcabo.pt

European Neurology
|May 11, 2012
PubMed

Insights

Functional transcranial Doppler (fTCD) can detect early cerebrovascular dysfunction in asymptomatic Fabry disease (FD) patients. This technique may help assess stroke risk and guide preventive therapy in individuals with FD.

Area of Science:

  • Neurology
  • Vascular Medicine
  • Medical Imaging

Background:

  • Cerebrovascular disease can be asymptomatic in early stages of Fabry disease (FD).
  • Early detection of vascular changes is crucial for managing FD patients.

Purpose of the Study:

  • To evaluate the utility of functional transcranial Doppler (fTCD) in assessing presymptomatic FD patients.
  • To investigate early cerebrovascular changes in the posterior circulation of FD patients.

Main Methods:

  • A cohort of 12 adult FD patients with the classical phenotype underwent fTCD.
  • fTCD was used to measure blood flow velocities in the posterior cerebral artery.
  • Neurovascular coupling was assessed in the visual cortex.

Main Results:

  • FD patients exhibited significantly lower resting blood flow velocities compared to healthy controls.
  • fTCD indicated disturbed neurovascular coupling in the visual cortex of FD patients.
  • Men with FD showed greater attenuation and lower natural frequency than heterozygous women.

Conclusions:

  • This study provides initial evidence of cortical vascular dysfunction in the posterior circulation of FD patients early in the disease course.
  • fTCD may prove valuable in assessing stroke risk in asymptomatic FD patients.
  • Findings suggest fTCD could improve preventive therapeutic strategies for FD.
Abstract

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