Cerebral hemorrhage in Fabry's disease

Authors :: Nakamura, Katsuya
Sekijima, Yoshiki
Nakamura, Kimitoshi
Hattori, Kiyoko
Nagamatsu, Kiyoshiro
Shimizu, Yusaku
Ushiyama, Masao
Endo, Fumio
Fukushima, Yoshimitsu
Ikeda, Shu-ichi
Source :: JOURNAL OF HUMAN GENETICS. 55(4):259-261
Publication Year :: 2010
Publisher :: NATURE PUBLISHING GROUP, 2010.
Abstract: Fabry's disease is an X-linked lysosomal storage disorder resulting from alpha-galactosidase A deficiency. Although ischemic stroke is recognized as an important manifestation of Fabry's disease, hemorrhagic stroke is considered to be rare. Here, we report our recent clinical experience with three hemizygous male patients with Fabry's disease who developed cerebral hemorrhage. One patient had classic type Fabry's disease with p.Ala37Val mutation and others had cerebrovascular variant with p.Glu66Gln mutation. Degeneration of the cerebral small arteries secondary to deposition of glycosphingolipids and aging, in addition to hypertension and antiplatelet/anticoagulant agents, are considered to be contributing factors for hemorrhage. Fabry's disease is frequently associated with not only ischemic but also hemorrhagic stroke, especially in elderly patients. Journal of Human Genetics ( 2010) 55, 259-261; doi:10.1038/jhg.2010.18; published online 19 March 2010<br />Article<br />JOURNAL OF HUMAN GENETICS. 55(4):259-261 (2010)