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Genetic Risk Factors in Venous Thromboembolism.
- Source :
-
Advances in experimental medicine and biology [Adv Exp Med Biol] 2017; Vol. 906, pp. 253-272. - Publication Year :
- 2017
-
Abstract
- Genetic risk factors predispose to thrombophilia and play the most important etiopathogenic role in venous thromboembolism (VTE) in people younger than 50 years old. At least one inherited risk factor could be found in about half of the cases with a first episode of idiopathic VTE.Roughly, genetic risk factors are classified into two main categories: loss of function mutations (such as deficiencies of antithrombin, protein C, protein S) and gain of function mutations, (such as prothrombin mutation G20210A, factor V Leiden). A revolutionary contribution to the genetic background of VTE was brought by the achievements of the genome-wide association studies which analyze the association of a huge number of polymorphisms in large sample size.Hereditary thrombophilia testing should be done only in selected cases. The detection of hereditary thrombophilia has impact on the management of the anticoagulation in children with purpura fulminans, pregnant women at risk of VTE and may be useful in the assessment of the risk for recurrent thrombosis in patients presenting an episode of VTE at a young age (<40 years) and in cases with positive family history regarding thrombosis.
- Subjects :
- Antithrombin III Deficiency complications
Antithrombin III Deficiency diagnosis
Antithrombin III Deficiency epidemiology
Europe epidemiology
Factor V genetics
Gene Expression
Genetic Predisposition to Disease
Humans
Methylenetetrahydrofolate Reductase (NADPH2) genetics
Mutation
Prevalence
Protein C Deficiency complications
Protein C Deficiency diagnosis
Protein C Deficiency epidemiology
Protein S Deficiency complications
Protein S Deficiency diagnosis
Protein S Deficiency epidemiology
Prothrombin genetics
Risk Factors
Thrombophilia complications
Thrombophilia diagnosis
Thrombophilia epidemiology
Venous Thromboembolism diagnosis
Venous Thromboembolism epidemiology
Venous Thromboembolism etiology
Antithrombin III Deficiency genetics
Protein C Deficiency genetics
Protein S Deficiency genetics
Thrombophilia genetics
Venous Thromboembolism genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0065-2598
- Volume :
- 906
- Database :
- MEDLINE
- Journal :
- Advances in experimental medicine and biology
- Publication Type :
- Academic Journal
- Accession number :
- 27638626
- Full Text :
- https://doi.org/10.1007/5584_2016_120