Abstract
Fabry disease is an X-linked lysosomal storage disease resulting from deficient activity
of the enzyme α-galactosidase (α-Gal) A. It has been postulated that the accumulation
of globotriaosylceramide in the endothelial cells of blood vessels may lead to thrombosis
of the brain and other tissues. Recently, enzyme replacement therapy (ERT) for Fabry
disease is available. A high incidence of thrombotic accidents in Fabry disease has
been postulated. However, a systemic study on thrombosis in cases of Fabry disease
has not been undertaken. To clarify the incidence of thrombosis in Fabry disease,
we screened 65 patients with Fabry disease (49 hemizygotes and 16 heterozygotes) from
39 unrelated Japanese families. We found that ten patients with Fabry disease (7 hemizygous
males and 3 heterozygous females) had experienced thrombotic accidents, under 45-years-old
in 8 cases. These 10 patients showed the gene mutations of classical Fabry disease.
Nine of these thrombotic patients developed brain infarctions, one man who had the
complication of recurrent thrombophlebitis, and the remaining woman showed central
retinal artery occlusion and thrombophlebitis. We demonstrated a high incidence of
thrombosis in Fabry disease (15%). ERT should be performed in patients not only in
hemizygous males but also in heterozygous females and started at their early ages.
Keywords
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References
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Article info
Publication history
Published online: March 13, 2009
Identification
Copyright
© 2009 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
