title: Clinical features in 36 patients homozygous for the ARG 506-->GLN factor V mutation.
abstract: We analyzed the clinical features of 36 patients homozygous for the Arg 506 to Gln factor V mutation and found a circumstantial event at risk for thrombosis in 29 of the 31 patients with thrombosis. The most frequent predisposing factors were the post-partum period and the use of oral contraceptives in women, and surgery in both sexes. Venous thrombosis recurred in 48% of the patients. One patient had a myocardial infarction at age 33 years, and also had an antiphospholipid syndrome. Homozygous Gln 506 mutation leads to far less severe thrombotic complications than homozygous protein C and protein S deficiencies and does not seem to predispose patients to arterial thrombosis.
authors.affiliation: Laboratoire d'Hémostase, Höpital Broussais, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Emmerich
authors.forename: M
authors.initials: M
authors.lastname: Alhenc-Gelas
authors.forename: M F
authors.initials: MF
authors.lastname: Aillaud
authors.forename: I
authors.initials: I
authors.lastname: Juhan-Vague
authors.forename: B
authors.initials: B
authors.lastname: Jude
authors.forename: J M
authors.initials: JM
authors.lastname: Garcin
authors.forename: M
authors.initials: M
authors.lastname: Dreyfus
authors.forename: P
authors.initials: P
authors.lastname: de Moerloose
authors.forename: A
authors.initials: A
authors.lastname: Le Querrec
authors.forename: P
authors.initials: P
authors.lastname: Priollet
authors.forename: M
authors.initials: M
authors.lastname: Berruyer
authors.forename: X
authors.initials: X
authors.lastname: Vallantin
authors.forename: M
authors.initials: M
authors.lastname: Wolf
authors.forename: M
authors.initials: M
authors.lastname: Aiach
authors.forename: J N
authors.initials: JN
authors.lastname: Fiessinger
mesh_terms: D000328:Adult; D000368:Aged; D001120:Arginine / Q000737:chemistry*; D016022:Case-Control Studies; D005121:Extremities / Q000098:blood supply; D005165:Factor V / Q000235:genetics*; D005260:Female; D005973:Glutamine / Q000737:chemistry*; D006720:Homozygote; D006801:Humans; D007511:Ischemia / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000235:genetics; D017354:Point Mutation; D012307:Risk Factors; D012727:Sex Characteristics; D013927:Thrombosis / Q000235:genetics*
chemical_list: D005973:Glutamine; D005165:Factor V; D001120:Arginine