| Description: |
Individuals with activated protein C resistance have a mutated factor V making it resistant to inactivation by activated protein C. More than 95% of cases are due to a point mutation, known as the factor V Leiden mutation, at 1 of the 3 arginine cleavage sites in the factor V gene. The presence of the factor V Leiden mutation confers a genetic risk for thrombosis, which is primarily venous. Individuals who are heterozygous for the factor V Leiden mutation have a 3 to 10 fold risk of venous thrombosis. Homozygous individuals have been reported to have a 50- to 100-fold increase in risk of venous thrombosis. |
