Which genetic mutation is associated with a significantly increased relative risk of developing deep vein thrombosis (DVT)?

Factor V Leiden is recognized as a specific genetic mutation that causes a significant increase in the relative risk of developing deep vein thrombosis (DVT). This mutation leads to a substitution of glutamine for arginine at position 506 of the factor V protein, which in turn disrupts the normal regulatory mechanism of the anticoagulation pathway. Consequently, the mutated factor V is resistant to inactivation by activated protein C, resulting in a prothrombotic state where clot formation is favored over breakdown.

Individuals who carry the Factor V Leiden mutation exhibit a much higher risk of experiencing venous thromboembolism, including DVT and pulmonary embolism, particularly when other risk factors are present. In fact, around 5% of the general population is affected by this mutation, but the occurrence of thrombosis in carriers can be substantially more frequent compared to non-carriers, especially among those with additional risk factors such as prolonged immobility, surgery, or hormonal influences.

Other conditions mentioned, while they also contribute to the risk of thromboembolic issues, do not carry the same level of genetic association with DVT as Factor V Leiden. Therefore, understanding the nature and mechanisms of Factor V Leiden is crucial for assessing thrombotic risk in individuals