Factor V Leiden is a genetic mutation that belongs to the family of blood clotting disorders called thrombophilas. Thrombophila simply means that the blood has a tendency to form clots. For anyone who has ever experienced a blood clot in their blood vessels, they know that it is a very serious condition.
The Factor V Leiden (FVL) genetic mutation is actually very common, affecting 5% of white patients. The overwhelming majority of these people carry only one copy of the FVL mutation. People who carry only one copy of the mutation are called heterozygotes. Patient with one copy of FVL are at an elevated risk for developing blood clots throughout their lives. Patients who carry two copies of FVL are called homozygotes and they are at a significantly elevated risk for developing blood clots. The homozygous FVL patient is at an 80-100 fold risk for developing a clot in their lifetime as compared to the general population.
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The development of blood clots occurs most commonly in patients in the following settings:
-After surgery
-After periods of prolonged immobility, i.e. a long flight, bed rest
-Pregnancy
-Increased hormonal states, such as taking hormone replacement therapy or oral contraceptives
-If the patient has cancer
Patients who carry this genetic mutation should alert their doctors to this condition and should avoid certain medications. In addition, precautions to prevent clots should be taken during pregnancy and after surgery if the doctor or hematologist feels that it is necessary.
Patients most frequently develop blood clots in the legs. Signs of a blood clot in the lower extremities or a DVT include:
-Leg swelling (one sided)
-Leg redness
-Leg pain
-Warmth
Sometimes a clot will dislodge and will travel to the lungs causing a pulmonary embolism. Signs of a pulmonary embolism include:
-Chest pain
-Shortness of berath
-Increased heart rate
-Cough
-Dizziness
-Passing out
-Sudden Death
If you experience any of these symptoms, get to an emergency room immediately for evaluation. Your doctor will need to run some testing to diagnosis these conditions.
Factor V Leiden is diagnosed using a simple blood test. The general population is not typically screened. Doctors will recommend this test if you experience unexplained blood clots, have a family history of clots or of FVL or if you have had pregnancy complications.
Patients with FVL mutation may need to be put on blood thinning medications such as coumadin, warfarin, lovenox or heparin during times of increased risk. These medications can be dangerous and should always be used exactly as directed.