title: Thrombosis in Japanese patients with Fabry disease.
abstract: Fabry disease is an X-linked lysosomal storage disease resulting from deficient activity of the enzyme alpha-galactosidase (alpha-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.
authors.affiliation: Department of Internal Medicine (Divisions of Neurology, Nephrology, and Rheumatology) Nippon Medical School, Tokyo, Japan. utsumi@nms.ac.jp
authors.forename: Kouichi
authors.initials: K
authors.lastname: Utsumi
authors.forename: Kae
authors.initials: K
authors.lastname: Ueda
authors.forename: Megumi
authors.initials: M
authors.lastname: Watanabe
authors.forename: Masanori
authors.initials: M
authors.lastname: Sakamaki
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Arii
authors.forename: Mineo
authors.initials: M
authors.lastname: Yamazaki
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Komaba
authors.forename: Ken-Ichiro
authors.initials: K
authors.lastname: Katsura
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Iino
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Katayama
mesh_terms: D000367:Age Factors; D001921:Brain / Q000098:blood supply / Q000000981:diagnostic imaging; D020520:Brain Infarction / Q000097:blood / Q000453:epidemiology / Q000235:genetics; D000795:Fabry Disease / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D005190:Family; D005260:Female; D005838:Genotype; D006801:Humans; D015994:Incidence; D020767:Intracranial Thrombosis / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D007564:Japan; D007962:Leukocytes / Q000378:metabolism; D008297:Male; D009154:Mutation; D011859:Radiography; D017422:Sequence Analysis, DNA; D012737:Sex Factors; D000519:alpha-Galactosidase / Q000097:blood / Q000235:genetics / Q000378:metabolism
chemical_list: D000519:alpha-Galactosidase