Clinical Features in 36 Patients Homozygous for the ARG 506 → GLN Factor V Mutation

Autor:	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, Marie Dreyfus
Rok vydání:	1997
Předmět:	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
Zdroj:	Thrombosis and Haemostasis. 77:620-623
ISSN:	2567-689X 0340-6245
DOI:	10.1055/s-0038-1656022
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::fb7c9563e6c4c332339f1f477421c630 https://doi.org/10.1055/s-0038-1656022 Zobrazit plný text záznamu