Factor V Leiden is a genetic trait that increases the risk of blood clots, particularly in people of European descent. It can be identified through a blood screening test and may cause symptoms such as thrombosis. Genetic testing can be done with the help of a genetic counselor. People with this trait can live healthy lives but need to be aware of clotting problems and take precautions.
Factor V Leiden is a genetic trait known to predispose people to blood clots. People with this trait have a variant of factor V, a protein found in the blood and involved in clotting mechanisms, that resists activated protein C, causing clots to develop even after the body releases enzymes to stop the clotting mechanism. This trait can be identified in people during routine screening conducted as part of a diagnostic process or when they specifically request testing due to concerns about a family history of this genetic variation.
People of European descent are more likely to have the factor V Leiden variation, which was first identified in the Netherlands in the 1990s. It is estimated that about 100-100 percent of people with European ancestry have at least one copy of the defective gene. Symptoms can vary, depending on the exact variation and number of gene copies someone has; for people with Factor V Leiden, developing blood clots and complications such as pulmonary embolism, where a clot enters the respiratory tract, is a potential risk.
Known as hypercoagulability disorder because it increases blood clotting, Factor V Leiden is identified by performing a screening test on a patient’s blood to see how resistant they are to protein C. In most cases, when this screening shows that the blood is resistant to activated protein C, this means that the patient has factor V Leiden. In combination with a family history of the gene, as well as blood clots in the patient’s personal medical history, this can be a strong diagnostic marker.
Some patients live with this genetic variation their entire lives without being aware of it, either because they carry a relatively mild mutation in the gene or simply because they get lucky when it comes to blood clot formation. Other individuals may develop symptoms such as thrombosis at various times in their lives, usually in response to known risks such as flying and certain medications.
People concerned about inherited blood disorders may choose to have genetic testing to look for common genetic variations. The test should be overseen by a genetic counselor who can also provide advice and assistance when the test results come back. People with factor V Leiden can generally live healthy lives, have children and perform normal activities, but need to be more alert to clotting problems and early warning signs of thrombosis and may be advised to avoid certain risks or take precautions extra.
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