Prothrombin G20210A Mutation
Sunday, November 02, 2008
Kenneth F. Trofatter, Jr., MD, PhD
Karen said...
Dr. T - I am 39 years old. I have a 16 year old son who was born at 24 weeks due to a placental abruption (he is perfectly fine today) and a 3, 2 and 1 year old from my current marriage. We wanted to have one more child and had 2 miscarriages this year. The 2nd miscarriage was at 15 weeks and my OB tested me and we found out I have Prothrombin G20210A gene mutation, a blood clotting disorder. I'm somewhat confused how my last 3 children were born with no problems other than I have an incompetent cervix. At my age, is this clotting disorder a high risk to my health/life? I would love to have another child, but I also REALLY want to be here for the 4 I have now. I'd love to hear your thoughts.
Karen
Kenneth F. Trofatter, Jr., MD, PhD said...
To Karen:
It is less likely the Prothrombin G20210A mutation had anything to do with your two miscarriages in view of your previous obstetrical history apart from the miscarriages. Much more common causes at your age are chromosomal abnormalities of the babies, an intrauterine abnormality such as a fibroid, scar tissue, or polyp, a hormonal abnormality such as thyroid disease, or an autoimmune condition. You have not told me the extent of your evaluation for “thrombophilias” that could contribute to your pregnancy losses, however, I am presuming you were at least screened for the more common genetic and acquired thrombophilias that have been variably linked to pregnancy loss and poor pregnancy outcome based on the fact you were identified as being a carrier of that prothrombin mutation.
About 2% of the population is heterozygous (carrying one dose) of the prothrombin mutation G20210A. This and the Factor V Leiden mutation are the two most common genetic causes of thrombophilia. Having the prothrombin mutation increases the risk of developing deep venous thrombosis (DVT), usually the result of a blood clot in the deep veins in the legs, and pulmonary embolus (PE) - a blood clot that travels to the lungs, usually from DVT - from approximately 1 in 1000 people to 2-3 in 1000 people each year. Having homozygous prothrombin mutations increases the risk even more. However, many people with the prothrombin mutation will never develop a blood clot in their lifetime. Factors that increase risk include age, pregnancy, obesity, family history of DVT/PE, smoking, diabetes, and the presence of other thrombophilias among many others.
So, those are my thoughts. The best thing you have going for you is the OB history of successful pregnancies in the past. If your doctor chooses to treat you during pregnancy to prevent venous thromboembolic events, at this point no more than prophylactic therapy is indicated. Good luck and thanks for writing.
Dr T
Labels: prothrombin mutation, recurrent pregnancy loss, thromboembolic complications and pregnancy, thrombophilias
7 Comments:
At Mon Nov 03, 06:04:00 AM 2008,
Rachel said…
Hi Dr. Trofatter,
You mentioned that, for this lady who is heterozygous for PT 20210 mutation, "no more than prophylactic dose anti coagulant therapy" would be indicated.
I am heterozygous Factor V Leiden and heterozygous PAI-1, and homozygous MTHFR (with normal homocysteine level). I lost my first pregnancy (the result of IVF for male factor infertility) at just over 16 weeks (twins)three months ago and am trying to get a handle on what would be the approproate Lovenox dose for me if we're lucky enough to conceive again. (Apparently the placentas were riddled with clots on pathology). I have never had a clot myself, and have no family history of the same.
My hematologst, RE, and MFM are all "conceding" that I could take 40mg of Lovenox once daily, but I'm concerned that that isn't enough. And the half-life of Lovenox is about 12 hours so wouldn't that leave me without proper coverage for half of each day?
Could you review typical "prophylactic" doses of LMWH for a situation such as mine?
Thank-you for your help.
Rachel
At Thu Nov 06, 12:05:00 PM 2008,
Nichole said…
I recently tested positive for pregnancy. My lmp was sept 12 and my date of intercourse was oct 3 so based on that they are saying I am about 7 weeks pregnant. Sunday night I started bleeding and passing clots. I went to the ER they tested my hcq level which was 574 and did a vaginal sono and found no fetal poles. So based on those two things I was told I was having a miscarriage and to follow up with obgyn. I went the next day which was monday she first tested my hcq again which rose to 635. She explained to me that at 7weeks that number should be at least 10,000 so it was abnormally low and with all the bleeding I was having I was more than likely having a miscarriage. So she put me on bedrest for 48 hours and had me come back in on wed to recheck the hcq level.If in fact it was a miscarriage she said this level will go down. When I went in on wed. my hcq level was 675 so it rose again but definately was not doubling like it should. So she had me go in for a vaginal sono because she thought it might be an ectopic pregnancy. During the sono they did find a small gestationsl sac that the sono tech told me it measured like it was a 4 week pregnancy. There was nothing but an empty sac. But as I sat to see the doctor again I got my hopes up and thought maybe I just was not as far along as they thought me to be, and the baby would develop fine. But when the doctor came in to go over the sono report I was told he did not think I had a viable pregnancy. There was a spot on my ovary which could be the ectopic pregnancy or it could be just normal ovulation. He couldn't tell for sure but to be safe he wanted to treat me as it was an ectopic. He suggested I get the methotrexate injection. I was leary on it because he couldn't explain the sac in the uterus but he did say that with my low beta levels and the way it was abnormally rising along with the heavy bleeding and all the clots he had no reason to believe it could ever be a viable pregnancy and pushed that I get the injection right then. So I did and now I'm feeling real guilty about it so just wanted some input
At Sat Nov 15, 01:12:00 PM 2008,
Anonymous said…
Hi Doctor,
My name is kelly.I am 29 years old.I had two pregnancy losses in the last one year. My first pregnancy was lost at 24 weeks as the baby had many abnormalities like heart was to the right side,even the brain and kidneys had also problems. They did all chromosomal tests on the amniotic fluid and found no issues with the chromosomes then. even the karyotype was tested and was found to be normal.It was a boy baby. Now last month I underwent D&c again ending my second pregnancy as the fetal pole was not established and my doctor said it was case of blighted ovum. Again the tissue was sent for chromosomal tests and again this time every thing was normal.This time it was a female tissue. I am really confused as what is happening with my pregnancies. me and my husband are very healthy. Doctor please suggest me on how to proceed to find out why my pregnancies are failing. what kind tests do we need to undergo. whom should we approach for a correct diagnosis.
At Tue Nov 25, 04:42:00 AM 2008,
dodie said…
Hi Dr.T, I will be 42.2 years at time of delivery, did a screening test at 12 weeks 1 day and the results came back at increased risk, BHCG 2.82 MoM, PAPPA 0.63 MoM, NT 0.1cm, CRL 6.6cm, Double Test 1:50, age risk 1:70. I will go through Amniocentheses on week 15 which is next week. Does it mean my results that I have a baby with trisomy 21? Thanks so much for your help.
At Tue Nov 25, 04:44:00 AM 2008,
dodie said…
Hi Dr.T, I will be 42.2 years at time of delivery, did a screening test at 12 weeks 1 day and the results came back at increased risk, BHCG 2.82 MoM, PAPPA 0.63 MoM, NT 0.1cm, CRL 6.6cm, Double Test 1:50, age risk 1:70. I will go through Amniocentheses on week 15 which is next week. Does it mean my results that I have a baby with trisomy 21? Thanks so much for your help.
At Fri Nov 28, 10:15:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Kelly: The two losses may or may not be related at all. If the babies were chromosomally normal, there is still the possibility that you and your husband share some bad genes(we all carry some) and the babies had a genetic problem. I suggest that you see a specialist in either Reproductive Endocrinology or Maternal-Fetal Medicine and they can direct you to a genetic counselor so that potential problems might be identified before you try to get pregnant again. Dr T
At Fri Nov 28, 10:17:00 AM 2008,
Kenneth F. Trofatter, Jr., MD, PhD said…
To Dodie: No. It means you have a 1 in 50 chance that the baby has Down syndrome (and therefore a 49 in 50 chance that it does not). So, keep your chin up! Best wishes and let us know how things turn out. Dr T
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