Functional transcranial Doppler: presymptomatic changes in Fabry disease.

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.