Why Should You Be Tested If You Have a Family History of Factor Five Leiden?
When David Bloom, 39, went to Iraq in 2003 to cover the war for NBC News, his wife, Melanie, naturally feared for his safety. Would a bullet or a bomb claim him? A land mine? An ambush?
Instead it was a blood clot lodged in his lungs that ended his life. Ms. Bloom subsequently learned that her husband carried a genetic abnormality, factor V Leiden, that greatly increased his risk for developing blood clots. Mr. Bloom had three other risk factors for clots: a long plane ride to Iraq, erratic eating habits that could have caused dehydration, and cramped sleeping space in Army vehicles. But had he not had this genetic quirk — or had he known about it and the higher risks it carried — he might have escaped his fate.
From the NY Times
Factor V Leiden is not a disease, it is the presence of a particular gene that is passed on genetically. Factor V Leiden is a variant of the protein Factor V (5) which is needed for blood clotting. People with Factor V Leiden have blood that has an increased tendency to clot.
A blood clot (thrombus) normally forms to stop the bleeding when an artery or vein is damaged, such as when you experience a cut. Clots form as a result of chemical reactions between specialized blood cells (platelets) and proteins in your blood (clotting factors). Anti-clotting factors control excessive formation of blood clots. One of the clotting proteins is factor V. People with factor V Leiden have a genetic mutation that results in factor V protein responding more slowly to the anti-clotting factors.
In the normal clotting process, anti-clotting proteins combine to help break up factor V to keep it from being reused and forming clots when clotting isn't needed. However, the factor V Leiden mutation keeps the anti-clotting proteins from breaking down factor V, which keeps it in the blood longer and increases the chance of clotting.
What are the symptoms of Factor V Leiden? There are no signs, until you have a blood clot (thrombosis).
What are the danger signals?'
The most common problem is a blood clot in the leg. This is indicated by the leg becoming swollen, painful and red. Or a blood clot in the lungs (pulmonary thrombosis) may develop, making it hard to breathe. Depending on the size of the blood clot this can range from being barely noticeable to the patient experiencing severe respiratory difficulty.In rarer cases the clot might occur in an arm or another part of the body.
Deep vein thrombosis (DVT). A complication of a deep vein clot can be damage to the valves in the veins in your affected leg, which normally serve to keep the blood flowing upward to your heart. This may result in a condition called chronic venous insufficiency, which causes chronic swelling and discoloration in your lower legs, because of the impaired blood flow.
Pulmonary embolism. DVT puts you at risk of a clot breaking off and traveling to your lungs or your brain. A pulmonary embolism can be fatal, so it's important to watch for signs and symptoms of a pulmonary embolism and to seek prompt medical attention.
Dangers-- oral contraceptives, pregnancy, estrogen replacement therapy, surgery
People with Factor V Leiden should:
Avoid standing or sitting in the same position for long periods of time. When travelling it is important to exercise regularly - the blood must not 'stand still' Altitude can worsen the problem.
Women carrying the Factor V Leiden gene should not take the contraceptive pill as this will significantly increase the chance of getting thrombosis.
Women carrying the Factor V Leiden gene should also consult their doctor before becoming pregnant as this can also increase the risk of thrombosis. The mutation has been linked with an increased risk of miscarriage and possibly other complications during pregnancy, including pregnancy-induced high blood pressure (preeclampsia), slow fetal growth and early separation of the placenta from the uterine wall (placental abruption). If you're a woman with factor V Leiden and you get pregnant, you're doctor should monitor you carefully throughout your pregnancy.
Other advice from my hematologist:
Never, ever let yourself get dehydrated.
Wear a medical alert bracelet in case of an accident and always let your treating physican know you have Factor V Leiden.