From the Guidelines
Factor 5 Leiden is a genetic mutation that increases the risk of blood clotting, particularly deep vein thrombosis and pulmonary embolism, and is associated with a higher risk of recurrent venous thromboembolism, especially in individuals with persistent risk factors or idiopathic venous thromboembolism 1.
Definition and Mechanism
Factor 5 Leiden is a mutation that affects Factor V, a protein involved in the blood clotting process, making it resistant to activated protein C, a natural anticoagulant that regulates clotting 1. This leads to an increased risk of developing dangerous blood clots, particularly in the legs or lungs.
Inheritance and Risk
The mutation is inherited, and individuals can have either one copy (heterozygous) or two copies (homozygous) of the mutation, with the latter causing a higher risk of clotting problems 1. The lifetime risk for venous thrombosis in factor V Leiden heterozygotes is approximately 10%, and for homozygotes, it is greater than 80% 1.
Management and Prevention
Management typically involves awareness of risk factors, possible preventive blood thinners during high-risk periods, such as pregnancy, hormone therapy, surgery, or long periods of immobility, and prompt treatment if clots develop 1. Testing for factor V Leiden is recommended for individuals with recurrent venous thromboembolism, especially those with persistent risk factors or idiopathic venous thromboembolism, as it may influence patient management and guide antithrombotic prophylaxis 1.
Key Points
- Factor 5 Leiden increases the risk of blood clotting, particularly deep vein thrombosis and pulmonary embolism
- The mutation is inherited and can be heterozygous or homozygous
- Management involves awareness of risk factors, preventive blood thinners, and prompt treatment if clots develop
- Testing for factor V Leiden is recommended for individuals with recurrent venous thromboembolism, especially those with persistent risk factors or idiopathic venous thromboembolism 1
From the Research
Definition of Factor V Leiden
- Factor V Leiden is a mutation in the factor V gene that increases the risk of blood clots [ 2 ]
- It is a genetic disorder that affects the blood's ability to clot, leading to an increased risk of thrombosis [ 2 ]
Relationship with Pregnancy Complications
- Factor V Leiden mutation has been linked to recurrent pregnancy loss (RPL) and other pregnancy complications [ 2 ]
- Studies have investigated the use of low molecular weight heparin (LMWH) and aspirin to prevent pregnancy complications in women with factor V Leiden mutation [ 2 ]
Clinical Significance
- Factor V Leiden mutation can increase the risk of blood clots and pregnancy complications, making it an important consideration in clinical practice [ 2 ]
- The use of LMWH and aspirin may help prevent pregnancy complications in women with factor V Leiden mutation, although more research is needed to confirm this [ 2 ]