Genetic Risk Factors in Venous Thromboembolism

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.

Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization

“…Recently, thrombophlebitis was classified as superficial vein thrombosis (SVT) and was recognized as a high-risk condition for PE [1]. The mechanisms and predisposing conditions for unusual thrombosis localizations, e.g., cerebral [2], portal [3] and retinal vein localizations [4], may differ from the ones identified for VTE [5]. VTE is the third most frequent cause of cardiovascular diseases and death, and it represents a relevant medical and social problem for its high occurrence and the severity of the phenotype in a large percentage of cases [6,7].…”

“…Venous thromboembolism is a multifactorial condition that results from the co-existence of acquired and/or inherited predisposing factors acting cumulatively, including some clinical conditions, such as autoimmune and inflammatory disorders, inflammatory bowel disease and celiac disease [9], or risk factors such as an altered body mass index, platelet and white blood cell count. Hypercoagulable states, i.e., variants of genes involved in hemostasis displaying pro-coagulant effects, play a pivotal role in this respect [5].…”

Identifying mutation‐driven changes in gene functionality that lead to venous thromboembolism

“…VTE and AF are both blood-related polygenic conditions and are not fully understood genetically (Bapat, Anderson, Ellinor, & Lubitz, 2018; Hotoleanu, 2017). They share genetic risk factors and patho-physiological bases for clot formation (Shariff et al, 2012).…”

Protein C Deficiency as a Risk Factor for Stroke in Young Adults: A Review

“…PC deficiency contributes to 2-5% of cases of VTE [18]. Comparatively, the chances of thromboembolism under the setting of PC deficiency are raised in veins rather than arteries, and the association has been established in the literature [19][20][21]. The dural sinuses and cerebral veins are interlinked with each other; thus, the formation of thrombus in the former can progress to the latter and vice versa.…”