Factor V Leiden a common gene mutation affecting clot formation
Dr. Keith Roach
Question: About seven years ago, my niece was pregnant with twins and developed chest pains and could not breathe well. She was rushed to the emergency room and found out she had blood clots in her lungs. A blood test sho wedshe had factor V Leiden. She was in the hospital for a long time, and everything turned out fine. I believe she was put on a blood thinner and is still on it. My sisters and brothers all got tested, and we all had the mutation, except for one sister. We were told it was inherited from one or both of our parents. My mother was still alive then and tested negative for it, so we were told it came fro mour father, who passed away quite a few years ago due to cancer. My blood test said I had one copy of the fac- torVL eiden mutation, and the doctor said to take one low-dose aspirinaday.I believe my sister takes a blood thinner, but we boys take low-dose aspirin. Are we taking the right medication for this disorder? Could our relatives possibly have inherited this disorder? I served in the U.S. Navy and asked why I was never tested for this disorder. They told me they only test you if there is a problem. I’m 68 now. — G.Z.
Answer: Factor V Leiden is an abnormal form of a protein in the process of coagulating the blood. It is a common mutation, and people with this particular mutation ar eat higher risk fo r developing abnormal blood clots. However, most people with the mutation will not devel opablood clot, and so the risks of an anticoagulant are generally considered to outweigh the possible benefits. I agree with most authori tiesthatpeople with one copy of the mutation, such as the one you inherited from your fathe r,sho uld not be treated with a “blood thinner,” i.e. ,ananti co- agulant, such as warfarin or one of the newer agents. Even people with two abnormal copies of the gene usually do not receive medication unless they ha veahi story of a blood clot.
Based on your age, it may be appropriate for yo ut ob eona spirin, from the standpoint of your heart, regardless of the factor V Leiden.
However, even with the aspirin, you should be aware that you have a somewhat higher level of risk, and I would recommend that you be very cautious in situations whe reblood clots are more likely to occur. Forexa mple, I would recommend that if you were to take a long plane tri p,y ou should be assiduous about periodically getting up and walking around. Further, you should let your doctor and surgeon know about this condition before any planned surgery, as it might be appropriate to use preventive medications, depending on the type of surgery.