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 m2) 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.
Key Words
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Article info
Publication history
Published online: March 14, 2016
Accepted:
February 11,
2016
Received in revised form:
January 26,
2016
Received:
December 1,
2015
Footnotes
Y.K. received research funding from Genzyme Corporation; T.O. received research funding from Genzyme Corporation, Dainippon Sumitomo Pharma, and Shire Corporation; Y.E. received research funding from Genzyme Corporation; H.I. received research funding from Genzyme Corporation and Dainippon Sumitomo Pharma; Y.I. received research funding from Genzyme Corporation.
Identification
DOI: https://doi.org/10.1016/j.jstrokecerebrovasdis.2016.02.019
Copyright
© 2016 National Stroke Association. Published by Elsevier Inc. All rights reserved.
