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

Abstract

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.

Associations of Cerebrovascular Regulation and Arterial Stiffness With Cerebral Small Vessel Disease: A Systematic Review and Meta‐Analysis

“… 51 , 52 , 53 , 58 , 63 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 75 , 77 , 78 , 80 , 81 , 83 , 86 , 87 , 91 The remaining 18 studies were prospective or retrospective cohort studies. 54 , 55 , 56 , 57 , 59 , 62 , 72 , 73 , 74 , 76 , 79 , 82 , 84 , 85 , 92 , 93 , 94 , 95 In 203 patients with leukoaraiosis, Bian et al 91 demonstrated that patients exhibiting more severe white matter hyperintensities (Fazekas grades II and III) had a significantly reduced cerebrovascular reactivity compared with those with lower severity. In another larger cohort study, Staszewski et al 58 reported that in 120 subjects, the lowest tertile of cerebrovascular reactivity had a 19‐fold greater likelihood of having cSVD compared with the highest tertile.…”