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Characteristics of Cerebral Microbleeds in Patients with Fabry Disease
Yu Kono1, Taichi Wakabayashi2, Masahisa Kobayashi3
1Department of Neurology, The Jikei University School of Medicine, Minato-ku, Tokyo, Japan.
Background And Purpose:
Fabry disease (FD) is an X-linked lysosomal storage disorder frequently associated with the central nervous system manifestations. Although white matter hyperintensity (WMH) on MRI has been previously reported, little is known about cerebral microbleeds (CMBs) in patients with FD. Our aim is to investigate the clinical characteristics of CMBs in patients with FD.
Methods:
All patients with FD were diagnosed by enzyme activity and/or gene analysis at Jikei University Hospital. We retrospectively enrolled consecutive patients with FD who underwent MRI study, including fluid-attenuated inversion recovery and susceptibility-weighted imaging, between July 2008 and September 2013. After categorizing the patients into CMB-positive and CMB-negative groups, we compared the clinical characteristics between the 2 groups.
Results:
We enrolled 54 patients (males, 24; median age 39 years, interquartile range; 29-50 years). The CMB-positive group included 16 (30%) patients. The number of males was significantly higher in the CMB-positive group than in the CMB-negative group (75% versus 32%, P = .003). The prevalence rates of chronic kidney disease (CKD) (estimated glomerular filtration rate < 60 mL/min/1.73 m(2)) and WMH were higher in the CMB-positive group than in the CMB-negative group (CKD: 44% versus 13%, P = .013; WMH: 88% versus 58%, P = .035). No significant differences in the number of vascular risk factors were observed between the 2 groups.
Conclusions:
The distinct characteristics of FD patients with CMBs were male sex, presence of CKD, and WMH. These factors may play an important role in the mechanism of hemorrhagic stroke in FD.
Insights
Cerebral microbleeds in Fabry disease (FD) are more common in males and associated with chronic kidney disease and white matter hyperintensities. These factors may influence hemorrhagic stroke risk in FD patients.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Fabry disease (FD) is an X-linked lysosomal storage disorder.
- Central nervous system manifestations are common in FD.
- Cerebral microbleeds (CMBs) in FD are not well understood.
Purpose of the Study:
- To investigate the clinical characteristics of CMBs in patients with Fabry disease.
- To identify factors associated with CMBs in FD.
Main Methods:
- Retrospective analysis of 54 FD patients diagnosed via enzyme activity and/or gene analysis.
- MRI studies including FLAIR and SWI were performed.
- Patients were categorized into CMB-positive and CMB-negative groups for comparison.
Main Results:
- 16% of FD patients had CMBs.
- CMB-positive patients were more frequently male (75% vs 32%).
- Higher prevalence of chronic kidney disease (CKD) and white matter hyperintensities (WMH) in CMB-positive patients.
Conclusions:
- Male sex, CKD, and WMH are distinct characteristics of FD patients with CMBs.
- These factors may be important in the mechanism of hemorrhagic stroke in FD.
