doi:10.1016/j.revmed.2008.02.006 
Copyright © 2008 Published by Elsevier Masson SAS
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Thrombophilies rares
Thrombophilies rares
- 作者：J. Emmerich
- 关键词：Trombophilia ; Antithrombin ; Protein C ; Protein S ; Venous thrombosis
- 刊名：La Revue de Medecine Interne
- 出版年：2008
- 期刊代码：237_02488663
- 类别：med
- 出版时间：June 2008
- 卷：29
- 期：6
- 页码：482-485
- 文件大小：107 K
摘要
These abnormalities are rare and induced a high thrombotic risk. This contrasts with activated protein C resistance for which genetic origin was established at Leiden (Netherlands), in 1993 ; it consists of a coagulant factor V gene polymorphism (factor V Leiden). If this abnormality is found in 20 to 30%of the patients, it confers a slight thrombotic risk. New abnormalities of haemostasis factors and gene polmorphisms have been found ; they induce a slight or moderate risk (factor II, factor VIII…) or may be of questioned about their imputability (homocysteine). We begin to anticipate for the possibility of « protective å genetic variants (factor XIII).
Technological advances (molecular biology particularly) are useful for gene polymorphims detection. But phenotypic techniques, as opposed to genotypic techniques, still remain pertinent, in order to search « private å mutations.
Multiple defects are often found in patients with thrombosis. As a consequence thrombophilia is a multigenic disease. Also environmental factors (favouring as well as triggering factors) should be taken in consideration with a particular attention for pregnancy and hormonal therapies.
When patients are correctly selected, biological assessment of thrombosis is informative in about 50%of the cases. Subjects before 50 years and « thrombophilic å families should be investigated. It is useful to evaluate thrombotic risk, to propose a preventive therapy of recurrences and to find out yet asymptomatic subjects.
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