title: High incidence of thrombosis in Fabry's disease.
abstract: Although a high incidence of thrombotic accidents in Fabry's disease has been postulated, few investigations have been performed. To clarify the incidence of thrombosis in Fabry's disease, we undertook a systematic study on thrombosis in patients with Fabry's disease including hemizygous males and heterozygous females. Sixty patients with Fabry's disease (45 hemizygotes and 15 heterozygotes) from 36 Japanese families were subjected to clinical, biochemical and genetic investigations. We found that seven patients with Fabry's disease (4 hemizygous males and 3 heterozygous females) had experienced thrombotic accidents. Six of these thrombotic patients developed brain infarctions, including one man who had the complication of recurrent thrombophlebitis. The remaining woman showed central retinal artery occlusion and thrombophlebitis. We demonstrated a high incidence of thrombosis in Fabry's disease. Thrombotic accidents occurred not only in hemizygous males but also in heterozygous females. The complication of thrombotic accidents should be taken into account in patients with Fabry's disease.
authors.affiliation: Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science.
authors.forename: K
authors.initials: K
authors.lastname: Utsumi
authors.forename: N
authors.initials: N
authors.lastname: Yamamoto
authors.forename: R
authors.initials: R
authors.lastname: Kase
authors.forename: T
authors.initials: T
authors.lastname: Takata
authors.forename: T
authors.initials: T
authors.lastname: Okumiya
authors.forename: H
authors.initials: H
authors.lastname: Saito
authors.forename: T
authors.initials: T
authors.lastname: Suzuki
authors.forename: E
authors.initials: E
authors.lastname: Uyama
authors.forename: H
authors.initials: H
authors.lastname: Sakuraba
mesh_terms: D000328:Adult; D002544:Cerebral Infarction / Q000150:complications; D000795:Fabry Disease / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D015356:Retinal Artery Occlusion / Q000150:complications; D013924:Thrombophlebitis / Q000150:complications; D013927:Thrombosis / Q000150:complications*; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase