Genetics of Venous Thromboembolism?

[Aajan]

Venous thromboembolism (VTE) is a multifactorial disease driven by environmental/acquired risk factors such as age, obesity, oral contraceptives, and immobility, as well as inherited risk factors such as genetic polymorphisms. VTE causes formation of blood clots, primarily of the deep veins. In the United States, it affects 300,000 to 600,000 individuals each year, proving fatal in over 100,000. The incidence is highest in people older than 80 years, with highest incidences reported in individuals of European or African ancestry. There have been a variety of investigations into the genetic determinants of VTE, ranging from candidate gene studies to genome-wide association studies. These investigations have led to the discovery of genetic variants that result either in an excess of a prothrombotic factor or a deficiency in an antithrombotic factor. Factor V Leiden is the most common and well-studied genetic cause of VTE, with the factor II c.*97G>A (formerly referred to as prothrombin 20210G>A) gene mutation and deficiencies in protein S, protein C, and antithrombin accounting for most of the remaining cases

[Mimi]

@aajan Widespread testing for mutations that might increase the risk of VTE is not warranted. However, in patients presenting with a VTE, testing should be considered if the following factors are present:
Age less than 50 years

Thrombosis at unusual sites

Recurrent VTE

Strong family history of thrombotic disease
Susceptibility to venous thromboembolism is very complex. Pathobiology of VTE involves both genetic and acquired factors. Patients who have had VTE have a genetic predisposition due to molecular abnormalities in the components of the coagulation cascade. Common genetic abnormalities, particularly among whites, include factor V Leiden and prothrombin gene 20210A mutations. Additionally, some abnormalities are found in gene loci antithrombin, protein C, and protein S.