title: [Comparison of two groups of 22 women homozygous or heterozygous for factor V Leiden mutation].
abstract: Clinical characteristics of thrombophilia associated with heterozygous mutation of factor V are well characterized. In contrast, they are not well documented in homozygous subjects who are rare. Moreover, estroprogestative intake and pregnancy are important precipitating factors of venous thromboembolism in women with factor V mutation. In order to determine difference in clinical expression between homo and heterozygous subjects, two groups of 22 age matched women were compared. A modified technique for the diagnosis of activated protein C resistance has been used, and its great specificity and sensitivity has been confirmed. In these two small series of patients, a greater severity of clinical profile was not clearly evident. However, recurrences and thrombosis during pregnancy were more frequent in homozygous than in heterozygous women. However, the differences did not reach significance. Molecular markers of hypercoagulable states were not regularly increased even in homozygous untreated patients, but they were more often increased in untreated than in treated patients. In contrast, to other varieties of thrombophilia, homozygous mutation of factor V may be associated with a minor clinical severity suggesting the role of environmental factors and/or still unknown molecular alterations.
authors.affiliation: Service d'Hématologie Biologique-Pr J.P. Marie, Hôtel-Dieu, Paris.
authors.forename: M M
authors.initials: MM
authors.lastname: Samama
authors.forename: J
authors.initials: J
authors.lastname: Conard
authors.forename: S
authors.initials: S
authors.lastname: Nassiri
authors.forename: M H
authors.initials: MH
authors.lastname: Horellou
authors.forename: R
authors.initials: R
authors.lastname: Arkam
authors.forename: I
authors.initials: I
authors.lastname: Elalamy
mesh_terms: D005165:Factor V / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009154:Mutation
chemical_list: C095381:factor V Leiden; D005165:Factor V