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Genetics (Expert Forum)
Heterozygous Factor V Leiden
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
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Heterozygous Factor V Leiden
by Mscookie, Sep 19, 2007 04:26AM
I lost my child at 38wks of pregnancy. After his birth they found that my placenta was full of blood clots and tested me for inhertited clotting disorders. They found I was heterozygous for Factor V Leiden. I have been doing some reseach on the gene mutation but keep getting conflicting reports. I have never had a clot or DVT, nor has anyone in my immediate family ever suffered the same. I have a few quetions in regard to this finding that I hope you can help me with.
1. Do I have an increased risk of Arterial Clots? Some studies say yes and some say no. I have no history of heart attack or stroke on either side of my immediate family either.
2. Next pregnancy I am to be put on a daily baby aspirin to thin the blood, but not Clexane because I have never had a blood clot. Does this sound suffice to you?
3. Am I at a big increased risk for DVT's and veinous clots? If so how much is this risk increased.
Thank you in advance for answering some of my questions
1. Do I have an increased risk of Arterial Clots? Some studies say yes and some say no. I have no history of heart attack or stroke on either side of my immediate family either.
2. Next pregnancy I am to be put on a daily baby aspirin to thin the blood, but not Clexane because I have never had a blood clot. Does this sound suffice to you?
3. Am I at a big increased risk for DVT's and veinous clots? If so how much is this risk increased.
Thank you in advance for answering some of my questions
Doctor's Answer
by Lisa Kessler, MS, CGC, Sep 20, 2007 09:33PM
, Sep 20, 2007 09:33PM
I am so very sorry for the loss of your baby and hope that you have people in your life who are providing you with the support that you need during this difficult time.
A recent review article looked at the role of factor V Leiden and other thrombophilias in determining the risk of arterial thrombotic events. The review concluded that the literature did not support an important relationship between factor V Leiden and the risk of arterial thrombosis.
As you may know, factor V Leiden is the most common form of inherited thrombophilia. Thrombophilia is a blood clotting disorder in which the blood has a tendency to clot more than normal. Factor V is a protein in the blood needed for normal blood clotting. A genetic alteration in the factor V gene is called factor V Leiden (pronounced lie-den). Having factor V Leiden can increase your chance of developing a blood clot. For a person with one factor V Leiden gene, the genetic risk of having a blood clot is 5 to 7 times higher than the average person's risk. For a person with two factor V Leiden genes, the risk can be up to 80 times higher.
Factor V Leiden runs in families in an autosomal dominant manner. This means that someone with a single factor V Leiden gene has a 50% chance of passing this altered gene to each child he or she has. Inheritance is not affected by gender. This result also may have implications for other family members. It is most likely that you have inherited this gene mutation from one of your parents, and they may consider having testing for factor V Leiden, too. Any siblings you may have, also have a 50% chance of having a factor V Leiden gene and may consider testing as well.
It may help you to meet with a maternal fetal medicine specialist to discuss questions about medications and preparing for another pregnancy. Your OB/GYN may have a recommendation, or the Society for Maternal Fetal Medicine website has a physician finder that can help you locate someone in your area.
A recent review article looked at the role of factor V Leiden and other thrombophilias in determining the risk of arterial thrombotic events. The review concluded that the literature did not support an important relationship between factor V Leiden and the risk of arterial thrombosis.
As you may know, factor V Leiden is the most common form of inherited thrombophilia. Thrombophilia is a blood clotting disorder in which the blood has a tendency to clot more than normal. Factor V is a protein in the blood needed for normal blood clotting. A genetic alteration in the factor V gene is called factor V Leiden (pronounced lie-den). Having factor V Leiden can increase your chance of developing a blood clot. For a person with one factor V Leiden gene, the genetic risk of having a blood clot is 5 to 7 times higher than the average person's risk. For a person with two factor V Leiden genes, the risk can be up to 80 times higher.
Factor V Leiden runs in families in an autosomal dominant manner. This means that someone with a single factor V Leiden gene has a 50% chance of passing this altered gene to each child he or she has. Inheritance is not affected by gender. This result also may have implications for other family members. It is most likely that you have inherited this gene mutation from one of your parents, and they may consider having testing for factor V Leiden, too. Any siblings you may have, also have a 50% chance of having a factor V Leiden gene and may consider testing as well.
It may help you to meet with a maternal fetal medicine specialist to discuss questions about medications and preparing for another pregnancy. Your OB/GYN may have a recommendation, or the Society for Maternal Fetal Medicine website has a physician finder that can help you locate someone in your area.
Member Comments (2)
by tinarett, Oct 04, 2007 01:25PM
Hi, I also have been diagnosed with Factor V. Leiden heterozygous, one bad gene. Unlike you I had a blood clot in my legs 5 times, it seems to be one and then the other leg. My first blood clot was when I was 17 in my right leg. Then 9 years I didn't have a blood clot and then when I got to America I had blood clot there again. Funny is, it was almost 2 months after I got off the plane. I had another blood clot in my leg about 2 years later, I was sitting a lot which is very bad for blood clotting. I was going to college at that time and sat a lot in classes and then again when doing home work even job was sitting. Another blood clot I had when I returned from America, it was the flight result (as I wasn't on warfarin at that time), but they only put me on Clexane injections and send me home. My last blood clot I had was in April 2007 after a surgery of having a uterine polyp removed, the reason was I was on too low dose of Fragmin injections. I was on Fragmin as I was trying to conceive, which is not recommended to be on warfarin. I have also taken Clomid. Now, I have grown another polyp and have to have it removed to be able to conceive later with Clomid and Fragmin inj. I feel they will not do IVF due to the risk. I am limited on hormones I can take. Provera should be ok, but can't take oestrogens as they contribute to blood clotting. I pray, I will be able to have a baby as I am not a straight forward case. And I wish you luck in your quest for a baby. I was told aspirin was insufficient to prevent blood clots but since you had not DVT or PE yet, I think you will be alright. I can't do it without the heparin injections however.
