Impaired cerebral autoregulation in Fabry disease: A case-control study

Area of Science:

• Neurology
• Vascular Biology
• Medical Imaging

Background:

• Cerebral small vessel disease is a frequent complication in Fabry disease (FD).
• Cerebral autoregulation impairment is a key biomarker for small vessel disease.

Purpose of the Study:

• To evaluate the prevalence of impaired cerebral autoregulation in FD patients using transcranial Doppler (TCD) ultrasonography.
• To compare cerebral autoregulation indices between FD patients and healthy controls.

Main Methods:

• Transcranial Doppler (TCD) was used to measure pulsatility index (PI) and breath-holding index (BHI) in middle cerebral arteries.
• Prevalence of increased PI (>1.2) and decreased BHI (<0.69) was compared between 23 FD patients and 46 healthy controls.
• Association of impaired cerebral autoregulation with white matter lesions on MRI was assessed.

Main Results:

• FD patients exhibited significantly higher prevalence of increased PI (39%) and decreased BHI (39%) compared to controls (2% for both).
• Combined abnormal indices were found in 61% of FD patients versus 4% of controls (p < .001).
• Abnormal cerebral autoregulation indices did not independently associate with white matter hyperintensities on MRI.

Conclusions:

• Impaired cerebral autoregulation is highly prevalent in Fabry disease patients.
• TCD is a valuable tool for assessing cerebral autoregulation in FD.