Back to Search Start Over

Genetic Risk Factors in Venous Thromboembolism.

Authors :
Hotoleanu C
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.

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