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hat is Factor V Leiden? How does this gene variation affect your blood health
Factor V Leiden (rs6025 or F5 p.R506Q) is a variant form of human coagulation factor V that leads to increased coagulation of the blood, the so-called "hypercoagulable state". Because of this mutation, anticoagulant protein C, which normally inhibits the clotting activity of factor V, is unable to bind to factor V properly, making patients more susceptible to the formation of abnormal and potentially harmful blood clots. According to relevant research, Factor V Leiden is the most common inherited hypercoagulable condition in people of European descent. It was first discovered in 1994 in the city of Leiden, the Netherlands, by researcher Rogier Maria Bertina.
Despite the increased risk of venous thromboembolism, people with one copy of the gene did not live significantly less than the general population.
Symptoms and signs
The symptoms of Factor V Leiden can vary from person to person. Some people who have the gene never develop blood clots, while others have recurrent blood clots before the age of 30. The impact of this variation depends on the number of F5 mutations an individual has, other genetic changes related to coagulation, and environmental risk factors. For example, surgery, oral contraceptive use, and pregnancy are all possible risk factors.
PathophysiologyDue to the pathophysiological characteristics of Factor V Leiden, the coagulation process is affected. Coagulation relies primarily on two pathways: intrinsic and extrinsic. In the coagulation process caused by internal injury or tissue cell damage, coagulation factor V acts as a cofactor and cofactor Xa activates thrombin. Of course, this process is regulated by anticoagulant protein C. However, the Factor V Leiden mutation makes anticoagulant protein C unable to effectively inactivate coagulation factor V, leading to excessive coagulation, which is the tip of the iceberg.
When factor V remains active, it promotes excess thrombin production, which in turn promotes excessive fibrin formation.
Diagnosis
Given the risk of thrombotic events due to Factor V Leiden, testing is generally recommended in white patients younger than 45 years of age or in individuals with a family history of venous thrombosis. Environmental testing and genetic testing are the current methods of diagnosis. Laboratories may use tests based on snake venom (such as the diluted Russell venom time) or the activated partial thromboplastin time (aPTT) for screening.
Management Strategy
There is still no cure for Factor V Leiden at this stage, so preventing thrombosis is the focus of treatment. Routine use of anticoagulants is usually not recommended for patients with a single mutation, but temporary anticoagulation is given if deep vein thrombosis or pulmonary embolism develops. Your doctor may also recommend anticoagulants, especially during certain high-risk periods such as after major surgery.
EpidemiologyStudies have shown that about 5% of white North Americans have Factor V Leiden, while this rare variant is less common in non-European populations. The presence of this mutation significantly increases the corresponding risk of venous thrombosis, especially under environmental factors such as smoking and pregnancy. Women are at significantly increased risk of developing deep vein thrombosis and pulmonary embolism when they are pregnant or using contraceptives containing estrogen.
Factor V Leiden and its impact on blood health have made many people more sensitive to their genetic makeup and health risks. So, in the face of such a genetic condition, how can we better manage our health?
