Factor V Leiden Mutation

The Factor V Leiden Mutation is a genetic disorder you are born with that makes your blood more likely to create irregular clots, especially in the veins. It comes from a particular mutation in the F5 gene, which codes for factor V, a key protein in the blood-clotting process. This mutation results in factor V being resistant to deactivation by activated protein C; therefore, clotting activity is prolonged.

Many people with factor V Leiden never experience symptoms. But people who get blood clots can have complications such as deep vein thrombosis (DVT) or pulmonary embolism (PE). Pregnancy, prolonged immobility, surgery, obesity, smoking, and estrogen-containing drugs increase risk.

You can inherit Factor V Leiden from one or both of your parents. If you have one mutated copy of the gene, you are said to be heterozygous for Factor V Leiden. If you have two altered copies, you are homozygous and have a higher risk of clotting in general.

Diagnosis is most often verified with specific blood testing or genetic analysis. Treatment varies based on a person’s history and risk factors. Anticoagulant medications may be needed for those who have had blood clots, whereas those who have not had clotting episodes may merely need to take preventive steps in high-risk settings.