Who is at risk for the factor V Leiden mutation?
This mutation is known as factor V Leiden, R506Q, or G1691A. An individual who is heterozygous has one copy of the factor V gene that carries the Leiden mutation and one copy that does not carry the mutation. Individuals who are heterozygous carriers of the mutation have an increased risk for thromboembolism.
How can you tell if you have Leiden mutation?
Diagnosis of Leiden mutation. Factor V Leiden mutation is inherited thrombophilia and can be diagnosed only by molecular genetic testing for Factor V (PCR testing). Determining APC-R is not specific, because there is also acquired form of APC-R e.g. in pregnancy, usage of oral contraceptives etc.
How is the Leiden mutation related to thromboembolic complications?
Leiden mutation or a mutation in factor V increases the risk of thromboembolic complications 5-10 times in heterozygotes and 50-100 times in homozygotes. It, also increases the risk of re-thrombosis. Leiden mutation is found in 20-60% of persons suffering from thrombophilia.
How is the Leiden mutation related to APC-R?
Factor V Leiden mutation is inherited thrombophilia and can be diagnosed only by molecular genetic testing for Factor V (PCR testing). Determining APC-R is not specific, because there is also acquired form of APC-R e.g. in pregnancy, usage of oral contraceptives etc.
How is factor V Leiden related to pulmonary embolism?
People who have the factor V Leiden mutation are at somewhat higher than average risk for a type of clot that forms in large veins in the legs (deep venous thrombosis, or DVT) or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism, or PE). Factor V Leiden is the most common inherited form of thrombophilia.
Why does APC not inactivate Factor V Leiden?
In people with the factor V Leiden mutation, APC is unable to inactivate factor V normally. As a result, the clotting process continues longer than usual, increasing the chance of developing abnormal blood clots. What is factor V Leiden thrombophilia?
When to use factor V Leiden and prothrombin 20210?
Factor V Leiden (FVL) mutation and prothrombin 20210 (PT 20210) mutation tests are two tests often used together to help diagnose the cause of inappropriate blood clot (thrombus) formation, including deep vein thrombosis (DVT) and/or venous thromboembolism (VTE).