A genetic disorder of blood coagulation (clotting) that
carries an increased risk of venous thromboembolism -- the formation of clots in
veins that may break loose and travel through the bloodstream to the lungs or brain.
On the molecular level, factor V Leiden is characterized by a G to A substitution
at nucleotide 1691 in the gene for factor V that causes a single amino acid replacement
in the factor V protein. On the clotting level, factor V Leiden is inactivated about
10 times slower than normal factor V and persists longer in the circulation, resulting
in increased generation of thrombin and a hypercoagulable state (thrombophilia).
F actor V Leiden is the most common inherited disorder of blood clotting in the
US, affecting 5% of Caucasians and 1.2% of the Afro-Americans. Individuals heterozygous
for the factor V Leiden mutation (with one copy of it) have a slightly increased
risk for venous thrombosis. Homozygous individuals (with two copies of the mutation)
have a much greater risk of venous thrombosis. The diagnosis of factor V Leiden
thrombophilia is made by a coagulation test or DNA analysis of the factor V gene.
Effective therapy is available and may involve heparin, warfarin and low-molecular-weight
heparins.
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