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Benign Hematologic (Blood) DisordersA collaborative project of the Arizona Telemedicine Program, the Arizona Health Sciences Library and the Arizona Cancer Center.
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Inherited Hypercoagulation Disorders: The Factor V Leiden Mutation
When a wound occurs, several changes take place to minimize blood loss. First, the blood vessel slows the flow of blood past the wound site. Next, platelets collect at the wound site to form a plug. Finally, fibrin clots form scabs to replace these temporary platelet plugs.
The coagulation, or clotting, factors are necessary for fibrin clot formation. Most coagulation defects result in a coagulation factor deficiency and increased bleeding. However, a newly discovered inherited disorder has been found which is produced by the factor V Leiden mutation, a change in the gene producing coagulation factor V. This mutation produces an abnormal factor V that cannot be destroyed in the bloodstream, leading to excess clotting and increased risk of thrombosis (clot formation, often blocking important blood vessels). Factor V Leiden produces an inherited disorder that is present in 4 to 6 percent of the population. Patients with the mutation have a three- to six-fold increased risk of developing thrombosis. In addition, their risk of thrombosis is higher if other risk factors are present than it is in normal patients with the same risk factors. These risk factors include injury, surgery, advanced age, oral contraceptives, and other genetic deficiencies (i.e. protein C and protein S). The disorder is detected by laboratory testing. More research must be done to determine the best treatment for the disorder. However, anticoagulation therapy using heparin or warfarin (Coumadin) or fibrinolytic therapy may be effective.
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Updated: October 30, 2000