1. Clinical Features in 36 Patients Homozygous for the ARG 506 → GLN Factor V Mutation
- Author
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M.F. Aillaud, Jean-Noël Fiessinger, Berruyer M, Martine Alhenc-Gelas, P Priollet, Garcin Jm, Joseph Emmerich, Martine Aiach, Martine Wolf, Vallantin X, de Moerloose P, Brigitte Jude, Irène Juhan-Vague, Le Querrec A, and Marie Dreyfus
- Subjects
medicine.medical_specialty ,biology ,business.industry ,Factor V ,Hematology ,medicine.disease ,Thrombosis ,Gastroenterology ,Protein S ,Surgery ,Venous thrombosis ,Antiphospholipid syndrome ,Internal medicine ,medicine ,biology.protein ,Coagulopathy ,Factor V Leiden ,business ,Protein C ,medicine.drug - Abstract
SummaryWe analyzed the clinical features of 36 patients homozygous for the Arg 506 to Gin 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 Gin 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.
- Published
- 1997