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Impaired cerebral autoregulation in Fabry disease: A case-control study
Lina Palaiodimou1, Georgia Papagiannopoulou1, Eleni Bakola1
1Second Department of Neurology, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Insights
Impaired cerebral autoregulation is significantly more common in Fabry disease (FD) patients than in healthy individuals. Transcranial Doppler (TCD) identified higher prevalence of abnormal pulsatility index (PI) and breath-holding index (BHI) in FD patients.
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.
Background And Purpose:
Cerebral small vessel disease is a common manifestation among patients with Fabry disease (FD). As a biomarker of cerebral small vessel disease, the prevalence of impaired cerebral autoregulation as assessed by transcranial Doppler (TCD) ultrasonography was evaluated in FD patients and healthy controls.
Methods:
TCD was performed to assess pulsatility index (PI) and vasomotor reactivity expressed by breath-holding index (BHI) for the middle cerebral arteries of included FD patients and healthy controls. Prevalence of increased PI (>1.2) and decreased BHI (<0.69) and ultrasound indices of cerebral autoregulation were compared in FD patients and controls. The potential association of ultrasound indices of impaired cerebral autoregulation with white matter lesions and leukoencephalopathy on brain MRI in FD patients was also evaluated.
Results:
Demographics and vascular risk factors were similar in 23 FD patients (43% women, mean age: 51 ± 13 years) and 46 healthy controls (43% women, mean age: 51 ± 13 years). The prevalence of increased PI (39%; 95% confidence interval [CI]: 20%-61%), decreased BHI (39%; 95% CI: 20%-61%), and the combination of increased PI and/or decreased BHI (61%; 95% CI: 39%-80%) was significantly (p < .001) higher in FD patients compared to healthy controls (2% [95% CI: 0.1%-12%], 2% [95% CI: 0.1%-12%], and 4% [95% CI: 0.1%-15%], respectively). However, indices of abnormal cerebral autoregulation were not associated independently with white matter hyperintensities and presented a low-to-moderate predictive ability for the discrimination of FD patients with and without white matter hyperintensities.
Conclusions:
Impaired cerebral autoregulation as assessed by TCD appears to be highly more prevalent among FD patients compared to healthy controls.
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