Readers' Questions Related to MTHFR Polymorphisms

67 Comments:

• At Sun Oct 07, 03:40:00 PM 2007,  Anonymous said…

  I'm now preganant with my first child. At 9 weeks I developed an arteriole occlusion in my right eye (retina) with some vision loss. My OB did quite a lot of testing and I was found to be positive for homozygous MTHFR. My homocystine level (not fasting) was normal and my doc doesn't think I need Lovenox or Heparin. I'm on baby aspirin alone but questioning if I should be on additional therapy or seek a second opinion. Any suggestions? Of note, I'm an otherwise healthy 29 yo with no history of lost pregancys or other clotting problems.

   

• At Wed Oct 17, 12:15:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Oct 7: Before I answer your question, can you tell me what other tests were performed and what were the results? I am more interested in knowing what might have caused the retinal arterial occlusion, and theree might be some other studies I would suggest if they haven't already been done, the results of which might 'make or break' the question related to more aggressive anticoagulation. Thanks for reading and for a very interesting query! Dr T
  Dr T

   

• At Fri Oct 19, 06:49:00 PM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Oct 7: Hope you don't mind, but I featured your comment in my blog posted Oct 19, 2007. Thanks for sharing your story and best of luck to you!
  Dr T

   

• At Tue Nov 27, 04:31:00 PM 2007,  Anonymous said…

  I'm trying to get pregnant again after three first trimester miscarriages. After a lot of testing, I was found to be positive for homozygous MTHFR but the A1298C (not 677) type. My homocystine level was normal so my dr doesn't think I need anything besides my regular prenatal and maybe aspirin, which I was on in my third pregnancy. Does the A1298C type not require extra folic acid or b vitamins like the 677 type does?

   

• At Thu Nov 29, 11:11:00 AM 2007,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Anonymous Nov 27: Personally, with your history of 3 miscarriages, I would still offer you supplemental folic acid (2 to 5 mg/day). It's inexpensive, potentially beneficial, and as far as I know, harmless. You can always stop it once you get through first trimester. Dr T

   

• At Tue Mar 11, 12:07:00 AM 2008,  Anonymous said…

  Dear Dr. T,
  I have a DVT in my left arm. My doctor performed coags studies and found one copy of two different MTHFR mutations. I am getting my entire blood family tested including my 23month old son. If he has this disorder I don't think I could forgive myself. What is the likelyhood that I have passed this on to him? I have been thinking it is time to have my second and final child, but If there is a high possibility of passing it on, I will have to adopt. I now have a hematologist
  and we have gone over the pregnantcy routine of getting off coumadin and taking two shots of lovenox a day three months before conception and throughout the entire pregnancy. I have been reading the other coments and I didn't know anything about B vitamins and folic acid, should I take them as well as the coumadin?

   

• At Fri Mar 14, 03:56:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Mar 11: Slow down, Girl. Your genetic make-up is what you inherited from your parents and it's not your fault (nor thirs for that matter). It's nothing you did, ate, drank, or smoked. There are MANY, MANY more people who have compound heterozygote polymorphisms for MTHFR than EVER have problems related to those. The folic acid will go a long way to reduce your risk and you SHOUD be taking that in addition to any anticoagulation therapy. I also do not understand the need to be on lovenox for three months before you conceive. That is not a usual approach to management under these circumstances unless your doctors have an explanation with which I am not familiar and if they do, I would love to learn what that is! Point in fact is, you did well with your previous pregnancy and will probably do well again. Rather than a hematologist, I would suggest you discuss your case with a specialist in Maternal-Fetal Medicine. Anyway, there is no need to "adopt" although there is nothing wrong with that either! Take a deep breath, count to 10 and RELAX, my friend. All of us have a few bad genes we wish we didn't!!!! Dr T

   

• At Mon Mar 17, 05:17:00 PM 2008,  Anonymous said…

  Dear Dr. Trofatter,
  
  In 2003/2004 I had two miscarriages (both “blighted ovum”). In 2005 I became pregnant for a third time, was placed on progesterone, and carried my healthy baby boy to term. Last year we began trying to conceive a second child and I subsequently have had two more miscarriages. The first of these two occurred quite early at around 8 weeks and I never had an ultrasound. With the second, I ended up finding a new doctor and having a D&C and had the fetal tissue analyzed. The fetus was found to be completely normal with no chromosomal abnormalities.
  
  My new doctor examined all of my records and prior tests and discovered that I am heterozygous for MTHFR. I am now pregnant again and my doctor has placed me on Lovenox, 4 mg of folic acid, and progesterone. I have done quite a bit of research about my condition and about using Lovenox. However, I have a few questions that I have not been able to find answers to and am hoping you can help me.
  
  Why was I able to carry my son to term with no problems? I read an article on the inciid website that states that “Poor pregnancy outcomes are associated with maternal thrombophilia but may also be associated with fetal thrombophilia by inheritance of maternal and paternal thrombophilic genes.” Could it be that my son inherited a healthy gene from both me and my husband? Could it be that the fetuses in my four prior losses inherited the thrombophilic gene(s) and hence the pregnancies resulted in losses? By undergoing Lovenox therapy is my baby much more likely to have thrombophilia than a child that I carry without Lovenox treatment? Of course, I have no idea whether my son has the gene too.
  
  Additionally, I have read that many patients with MTHFR are placed on other B vitamin supplements as well. Should I request that my doctor provide me with a prescription for this? Is there any risk associated with supplementation?
  
  Thank you so much for your time and consideration.

   

• At Fri Mar 21, 07:14:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous mar 17: Most people who are heterozygous for an MTHFR polymorphism have no problems with pregnancy and are at relatively low risk for hromboembolic complications on that basis alone. So, there might be some other reasons for your multiple losses that have not yet been identified, even 'genetic problems' that might only afect some of your conceptuses. regardless, with your past poor OB history, you have been placed on a course of empiric therapy that will probably help if anything can. Extra B-vitamins should not be harmful to the pregnancy but should not be taken in combination with excess fat-soluble vitamins such as A, D, and E. Good luck and hope things go well. I am sure some other readers will want to know how things turn out! Thanks for reading. Dr T

   

• At Thu Mar 27, 03:20:00 PM 2008,  idnas66 said…

  Dr. T, I have had 2 miscarriages & recently, a full term pregnancy :) Bcause of my miscarriage history, auto immune issues in my family & my age (40), they tested for "everything". I tested positive for compound hetero MTHFR. I was on progesterone, prednisone, Lovenox, folic & baby asa. The result is a beautiful (small) baby boy. I was induced at 38 wks. so I could stop Lovenox. My son was 5 lbs. & went down to 4 11. He's 9 months & 15 lbs. He is ahead in all milestones, but small. **This morning, he had an echo for a murmur they found on Monday & he has PDA. He'll need to have it repaired when he is 2-4 yrs old. Is this because of my MTHFR? We'd like to get preg once more, but I want to know the chances of future cardiovascular issues w/ another pregnancy. Thanks so much!
  PS, I did not "need" prednisone for any + autoimmune result; but my Dr. did research (& took it herself & delivered 6 months before me after 6 miscarriages) so I went w/ her advice.

   

• At Sun Mar 30, 08:03:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To idnas66: Your first baby was very small and might have had some degree of intrauterine growth restriction secondary to either a small or a poorly vascularized placenta. This does put the baby at risk for a PDA, particularly if the latter was the case and the baby's heart had to work extra hard to push blood through the placenta. Cardiovascular abnormalities associated with MTHFR polymorphisms are usually more major structural abnormalities. Structural heart abnormalities carry about a 5% risk for recurrence of the same or another cardiovascular malformation. I don't know if you really needed the prednisone either, but at your age, it may increase your risk for type 2 diabetes (or gestational diabetes) with another pregnancy and diabetes, early in pregnancy, does increase the risk for fetal cardiovascular abnormalities. Good luck and thanks for sharing your story. Dr T

   

• At Sat Apr 12, 07:52:00 PM 2008,  Renee said…

  My name is Renee and I am 21 years old. I know that I am homozygous MTHFR and heterozygous prothrombin gene variant. I'm not really sure what the second means for me though. I am currently on a baby aspirin and two vitamins daily per my hematologist and when I one day start trying to conceive I have already been told I will need to be on blood thinners. My fiance has increased hemoglobin in his blood and I am wondering with my "problems" and his if that will cause an additional problem in conceiving? Also, what else should I know about my "condition"? I know some women know exactly what mutation they have. Should I know what mine is? My hematologist has also told me that my gene variant is more of a problem than my MTHFR but I don't really understand why. I have been told to get off BC and I have within the last few months due to having face and arm numbness during migranes. If you could possibly provide me with any additional information or just specific questions on what to ask my hematologist I would greatly appreciate it. When I originally found out I had these two conditions I was too young to understand it was such an issue. Now I am trying to find out as much as I can to be prepared for the day when I start to conceive. Thank you.

   

• At Sun Apr 20, 05:35:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Renee Apr 12: First, a couple of questions - What led to your diagnosis? Was it the migraines and your numbness, or something else? Do you have any other medical problems? Is there a family history of blood clotting problems, recurrent pregnancy loss, or autoimmune diseases? What does your fiance have for a diagnosis of his "high hemoglobin?"
  
  With all that said and done, the hematologist is less worried about the MTHFR polymorphisms because they can usually be overcome with high dose folic acid. By the way, did your hematologist check a fasting homocysteine level on you? Ask him/her. The prothrombin mutation can be associated with blood clotting problems that accompany certain 'risk factors' such as smoking, oral contraceptives, and pregnancy. If you have never had a 'blood clot' problem, they will probably use only a 'prophylactic dose (low-dose) of heparin or low-molecular weight heparin (such as Lovenox) during pregnancy. You will have to learn to give yourself subcutaneous injections, but that is not hard, so don't panic over that. When you get ready to conceive, tell your doctor and your hematologist and they can plan together how you should be treated both before and during a pregnancy. Good luck, thanks for reading, and sorry it took me so long to get back to you. Dr T

   

• At Fri Jun 06, 08:54:00 AM 2008,  BethanyE said…

  Hi,
  I was wondering if you could help me out some. My husband and I had our first son by emergency c section at 23 weeks because i developed preeclampsia.(forgive me if the spelling is wrong)He made it and he is 4 now. After he was born that way though I was tested for MTHFR and tested positive. However I do not understand the results and I was hoping you could help me decipher them so that I can know what type i am at what precautions I should be taking because we would like to get pregnant one more time. My results say:
  Hetero: one allele is mutated
  Homo: both alleles are mutated
  
  Then it says something about double heterozygous.
  
  Any help would be appreciated. thanks!

   

• At Sat Jun 07, 09:46:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Bethany: It sounds like ou are a COMPOUND heterozygous carrier. Tht means you have one dose each of two different MTHFR mutations. This may or may not have contributed to your previous pregnancy problems. Before conceiving again, however, I would recommend starting a folic acid supplement of 2 to 4 mg per day. I will usually also offer a baby aspirin to my patients who have had the pregnancy complications you did. What other tests did your doctor do to evaluate you? Dr T

   

• At Thu Jun 12, 02:54:00 PM 2008,  Heather said…

  Hello Dr. T--I am not sure if you are still answering questions from this posting, but I have been reading your blog and it has been a great source of information. I am hoping you could provide some insight for me...
  
  After two early miscarriages (both around 5 weeks), my OB had me undergo a series of blood tests and chromosome tests (I'm 34 and had been trying to get pregnant for about 6 months; We wanted to do the tests sooner than later.) I tested positive for Homozygous A1298C. My homocysteine levels were normal (5.2). All other bloodwork was normal.
  
  My OB prescribed Folgard Rx, 1 pill twice a day, in addition to my prenatal (which has 800 mcg). In addition, I usually eat cereal fortified with folic acid, plus lots of green leafy veggies each day.
  
  About 4 days after starting this new regimen, I began to experience some troubling symptoms: Episodes of heart palpitations (followed by hyperventilation brought on by fear); extreme fatigue on some days; other days I am OK. These symptoms have been going on for about a week. I have stopped taking the folgard, and all vitamins. I am not pregnant.
  
  I called my OB after the heart palps happened for the 3rd day in a row, and he insisted that the folgard could not do this. I have seen my PCP and a cardiologist (I am currently on a halter monitor).
  However, my doctors are befuddled; they do not seem to know anything about MTHFR, or whether high doses of folic acid could provoke this reaction. I do not take any other medications, don't smoke, drink, do drugs; I live a very healthy lifestyle.
  
  I had my folic acid level checked two days ago, and it was >24 ng/ML. I hadn't taken any supplements for 3 days.
  
  In your opinion, could the folgard have triggered this reaction? How long does folic acid stay in the body? With my condition, should I be seeing a perinatal specialist or RE? I sincerely appreciate your time. thanks--H.C. 6/12/08

   

• At Fri Jun 13, 11:53:00 AM 2008,  Anonymous said…

  Dear Sir,
  I found out today, I tested positive for MTHFR and have Factor 2. My daughter tested positive a few months ago when hospitalized with blood clots in her lungs. I had miscarried twice and preeclampsia which resulting in fetal death at 23wks. I nearly died. My point is I am 48 and these problems were 20-25 years ago. I am writing to thank you for the posted information as it will help my daughters deal with possible problems in pregnancy.
  Appreciate all the info. although it is too late to help me. I am assume I am fortunate to have the 2 daughters I do have. I cry for my lost babies due to ignorance.
  Keep up the good work!

   

• At Sun Jun 15, 08:11:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Heather June 12: I too am befuddled. I am not aware of any toxicity in a healthy woman at the does of folic acid you have been given. Folic acid can sometimes mask vitamin B12 deficiency causing neurologic problems and this most often occurs in the context of the autoimmune condition called pernicious anemia, but that is usually associated with neurologic symptoms. I wonder if you might have been sensitive to something else in the vitamins? Have you been screenid for evidence of thyroid disease? I agree with the Holter monitoring and your doctors might also consider a "stress test" under these circumstances. In other words, you may have some underlying problem that just happened to declare itself at the time you began the supplementaion.
  
  The half-life of folic acid has never been of much concern from what I can tell in the literature. Excess folic acid is usually simply excreted in the urine or metabolized. Regardless, I will be VERY curious to find out what YOU find out, so please let us know. Thanks for writing and best wishes. Dr T

   

• At Sun Jun 15, 09:05:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 13: Thank you for the kind comments and sharing your story. My best regards to you and your familiy and thanks for reading! Dr T

   

• At Wed Jun 25, 08:56:00 AM 2008,  Anonymous said…

  I am newly pregnant with my third child, 5 weeks, and have previously tested positive for the double MTHFR mutation (normal homocystine levels). I have had 2 miscarriages and 2 successful pregnancies. My new doctor seems incredibly unfamiliar with MTHFR. I have been referred to a maternal fetal medicine specialist, who said they don't need to see me until around week 11, once all of my initial lab work has come in? This seems late to me, although I've never had to see a specialist in the past, so I really don't know when they prefer to see patients with MTHFR. I'm wondering if I should just wait to see if I make it until week 11 or if I should push to see the specialist sooner? My sister was on twice daily injections throughout her entire pregnancy, starting much sooner than week 11. Any advice?

   

• At Wed Jun 25, 10:19:00 PM 2008,  dana said…

  Dr. T
  After a huge round of tests I recently found out I am going through premature ovarian failure (I'm 40) and my doctor wanted to do more tests to find out why (he said my ovaries are functioning at a 60-65 year olds level). Although he hasn't come up with a clear cut answer for why, based on the many tests he's done today I found out I am homozygous MTHFR positive. (About 4 years ago I was told I was factor V leiden positive after a significant DVT - it had reached my IVC - this was after a trauma. I also had a superficial phlebitus (spontaneous) about 10 years ago) Recent tests didn't show a positive factor V leiden result. I'm undergoing a fasting homocystine test tomorrow to find out more but I had a couple of questions in the meantime. The doc said the premature ovarian failure started at least 5 years ago (so he said I could not get pregnant without a donor egg and this would have been the case even if I had found out much earlier) and today he said the MRHFR would affect my ability to carry to term with a donor. 1) I haven't been married but am still holding out some hope of a family - is this still possible given these results? 2) Should I have family members (i.e. my parents and brother) tested to see if they have the MTHFR abnormality - if they should be on meds to prevent stroke, dvt, etc... they should know. 3) Why would one factor V leiden come out + and one - ? If the homocystine comes out elevated my doc is going to put me on permanent bloodthinner I was on coumadin for 1.5 years after a week in the hospital for the dvt - (I don't know if I was tested for MTHFR or homocystine back then). Thanks in advance for your insight! Dana

   

• At Thu Jun 26, 06:38:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 25: If you are taking folic acid, have a normal homocysteine level, and have had two successful pregnancies (and no history of any sort of thromboembolic event), you are probably at low risk for complications. If the MFM sees you around 11-12 weeks, he/she can also offer you combined first trimester screening for aneuploidy if you are interested. Good luck and let us know how things turn out. Dr T

   

• At Thu Jun 26, 07:29:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Dana: With your history of DVT and emboli, perhaps the premature ovarian failure is a blessing in disguise. Pregnancy would put you at increased risk for further thromboembolic complications and even death. I would inform other family members of your thrombophilia. Since the test for Factor V Leiden is a genetic test, one of the studies MUST have been incorrect! Once you're born with that, it does not go away. You might want to discuss your options for "having a family" with a specialist in Reproductive Endocrinology. Kind regards, Dr T

   

• At Fri Jun 27, 11:28:00 AM 2008,  Anonymous said…

  Dr. Trofatter:
  
  In 2007 my daughter's baby was dx'd with anencephaly. An early (8wk) ultrasound before this dx showed that she had a small sub-chorionic hematoma. She conceived again in January 2008, and her first ultrasound at 10 weeks showed another sub-chorionic hematoma. She miscarried at 12 weeks (symptoms and outcome sounded like placental abruption, although no one told her this). She has been on 4 mg of folic acid daily since June 2007, and is now pregnant (just determined). Should she have been/be screened for MTHFR? The only family hx I can think of is my paternal grandmother and my sister had/have pernicious anemia, and my husband's mother has a hx of two sp.ab's in 5 pregnancies.
  
  Just looking for some answers. Thanks.

   

• At Fri Jun 27, 09:27:00 PM 2008,  Anonymous said…

  Hi. im 19 yrs old. I got diagnosed with having MTHFR c677t and A1298C mutations (both heterozygous) after being on birth control pills for a few months and having an episode of the left side of my face and left arm go numb for a few minutes. my new primary care doctor said to take adult asprin everyday and 1mg of folic acid everyday. my first question is, is adult aspirin overkill? i feel like i'll be more likely to have stomach ulcers berfore anything else with a blood clots happen. i happen to work in the MRI department of the local hospital. the tech i was working with needed to test a brain scan and i voluntered to go in the scanner. Surprise, i've had a small stroke. the radiologist verified it. becuase ive had a stroke, do you think my primary care doctor would wanna change my medication regimen?
  
  thanks,

   

• At Thu Jul 03, 08:54:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 27: Your daughter's two losses may not have been related in any way. She could be screened for MTHFR polymorphisms, but if she had one or more, the folic acid is usually sufficient to overcome any deleterious effects of these. However, with the family history of pernicious anemia, I would be more worried that she could have that (an autoimmune condition that interferes with absorption of vitamin B12 - important in many of the same metabolic pathways as folic acid) or some other autoimmune condition (e.g., thyroid disease, antiphospholipid antibodies, lupus anticoagulant) that might also be contributing to her losses and put her at greater risk for pregnancy complications. Wish her luck for me! Dr T

   

• At Thu Jul 03, 08:58:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous June 27: If you have really had a stroke, you might ask your family doctor to evaluate you for a genetic or acquired "thrombophilia" rather than just brushinh this off as being related to the birth control pills alone. An alternative is to ask for a second opinion with a hematologist and/or a cardiologist. Usually a single enteric-coated baby aspirin (81 mg) and folic acid is all that is recommended for prophylaxis when you have MTHFR polymorphisms alone. Dr T

   

• At Sat Jul 12, 03:06:00 PM 2008,  kristy said…

  Dear Anonymous june 25...
  I was in a similar position. 10 weeks in pregnancy...told to see specialist to diagnos poroblem that caused previous miscairrage. they told me to come in at 13 weeks I thought it would be too late for me to since I miscarried at 12 1/2 weeks before. but I didnt say anything. at my 13 wk appointment they did the Ultra sound and it was too late, I had lost the baby again...further testing revealed that I am Homozygous MTHFR A1298c. My point...PUSH TO GO IN AS SOON AS THEY WILL LET YOU!!! now that I know, I wish I had been more proactive. now I am on 4MG of Folic Acid, B6 & B12 and hoping to try again soon but I will be much more pushy for ongoing evaluation of my nxt pregnancy... GOOD LUCK!!!!

   

• At Sat Jul 12, 03:13:00 PM 2008,  kristy said…

  Hi, I am 31 and was recently diagnosed MTHFR Homozygous A1298c after my second miscairrage in one year. I just started taking 4mg of folic acid, b6 &b12. How long should I be on these for them to take effect before I should try to concieve? I'm not on any blood thinners yet..should I be? He just said that when I did get pg he wants to put me on progesterone. Will that help with the MTHFR problems?

   

• At Tue Jul 15, 08:56:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kristy: Within a month of starting the folic acid should be adequate. Did you have fasting homocysteine levels done before you started the folic acid? The only other 'blood thinner' I would consider at this point in your case is a single baby aspirin (81 mg) per day. Don't know if progesterone would have any benefit under these circumstances alone, but it shouldn't hurt either! Good luck. Dr T

   

• At Thu Jul 17, 02:13:00 PM 2008,  Anonymous said…

  Hello again. I posted before on Jun. 27th at 9:27pm as anonymous. You suggested that maybe i should have my doctor evaluate me for genetic or acquired thrombophilia. I tried googling that but I am confused about what that is. Would evaluating for genetic or acquired thrombophilia be like a blood test for gene defects, like the one i had before that found the MTHFR mutations? Maybe you could give me the names of genetic or acquired thrombophilias,... so I can then google the name and get a better idea of what that is. sorry if this is confusing. thanks for your help.

   

• At Fri Jul 18, 08:26:00 AM 2008,  Anonymous said…

  Hey Dr.T... I just found out that I have the MTHFR C677t and A1298C (heterozygous for each). I was reading about heart defects that can be associated with it. I had a heart murmur when i was about 4 but it went away. Is there any possibility that a heart murmur can be linked to the MTHFR mutations?

   

• At Fri Jul 18, 08:33:00 AM 2008,  Anonymous said…

  how imprtant is it to get my family tested for the MTHFR mutations? I have it and i told my sister that she may want to get tested, but she doesn't think she needs to because she's never had any health problems or any thrombophilia related incidences. I'm worried because she just got married and I'm pretty sure kids are next. I also can't convince my parents to get tested either. any advice? :)

   

• At Fri Jul 18, 05:54:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 17: Genetic mutations include MTHFR, prothrombin mutations, Factor V Leiden, Protein C and S deficiencies, antithrombin III deficiency, and others. The primary acquired thrombophilias are antiphospholipid antibodies, lupus anticoagulants, anti-beta-2-glycoprotein 1. Dr T

   

• At Fri Jul 18, 06:00:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 18: Structural defects of the heart may be linked to MTHFR. It sounds like you had a small ventriculoseptal defect that closed spontaneously after birth. I am not sure that could be linked to MTHFR because they are very common. I would simply suggest starting supplemental folic acid before any pregnancy you plan to minimize your risks for both heart and neural tube defects in a baby. Dr T

   

• At Fri Jul 18, 06:02:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 18: I do not think it is necessary to test the whole family at this point. If they develop complications and/or want to be screened, so be it. I would suggest that your sister take supplemental folic acid when she begins to think seriously about having a baby. Dr T

   

• At Sat Jul 19, 05:15:00 PM 2008,  Kayty said…

  I was diagnosed with MTHFR after a few very early term miscarriages. Although, I am unsure in my case about the homocystine levels or if I am hetero or homo - after the diagnosis, with my next pregnancy my OB had me do the following: once a day baby aspirin, lovenox shots daily until 36 weeks and then we switched to heparin 2 times a day and then I was induced at 38 weeks. I now have a beautiful baby girl (to follow my 3 yr old little boy - no issues with that pregnancy other than a cerclage for an incompetent cervix - diagnosed with 1st pregnancy ending in a late term miscarrage). Whew - now my question. Other than continuing to take a daily baby aspirin is there anything else I should be doing? Should I test my daughter - or just make sure she is aware later in life when she is ready to have children? I just had the esure/asure procedure done so no more children in my future, but now I am hearing I shouldn't have soy products due to estrogen etc. I have tried to research some online - however, everything I am finding is related to being pregnant. Any guidance would be appreciated or suggestions on where to find more info...

   

• At Wed Jul 23, 11:00:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kayty: If your only 'complication' from the MTHFR mutation(s) has been the miscarriages, I am not sure you need to wory much. (If, on the other hand, you have had blood clotting complications, that is a different story). Usually folic acid supplementation alone is sufficient to overcome many of the risks of the MTHFR abnormality. A baby ASA won't hurt, but beyond that is certainly not necessary at this point. Many, many women carry one or two MTHFR mutations, don't know it, and don't have any complications - so I think it would be awfully hard justifying exclusion of soy from your diet for fear of its slight estrogeniv effects. At this point, I don't think you have to have the fammily tested either. Best wishes and thanks for reading. Dr T

   

• At Thu Jul 24, 06:03:00 AM 2008,  Anonymous said…

  In 2005 I gave birth via c-section following a pregnancy which had me on moderate bedrest for mild PE. Day 2 follwing the c-section I developed superficial thrombosis in my right leg. I was then diagnosed as homozygous MTHFR c677T. I have taken foltx since that time. Fast forward to 2007, once again pregnant (age 38) I had a nonfasting homocystein level on 5.62 when I was 6 weeks pregnant. At 26 weeks discovered the baby was 3 weeks behind in growth, at 32 weeks discovered significant CHD at 35 weeks had an emergancy c-section when we did a bio-physical unltrasound on her due to decreased movement (2/8) Our Violet lived three days before she died. Any suggestions/recommendations for our next pregnancies? Thanks for this great information you have offered to others previously!!
  
  Emily

   

• At Thu Jul 24, 02:57:00 PM 2008,  Anonymous said…

  Hi. I'm 20 years old and i have MTHFR C677T AND A1298C. I woke up last week to the weird feeling of tingling and almost numbness all over (no other symptoms). things i'd touch almost felt like they were crawling. i went to the ER and they did some blood tests and a cat scan but everything came back normal. they said to make an appt with my doctor. it's been 6 days since the incident and i still feel the tingling sensation all over when i move and touch things. it's not as strong as the first night though but it seems like it's starting to get worse as the days go by. the MTHFR mutations is the only thing ive been told thats wrong with me. could this weird sensation be in some way correlated with MTHFR mutations? i see a Doctor next week, but it's drivin me nuts!!!

   

• At Fri Jul 25, 06:20:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Emily: I am so sorry about Violet. I am presuming she was chromosomally normal and wasn't suspected of having a syndromic (genetic) condition. Other than taking high dose folic acid (4 to 5 mg per day), B-complex vitamins, and perhaps a baby aspirin, I don't have any other suggestions at this time to prevent fetal heart and neural tube malformations. However, with your history of superficial thrombophlebitis and the severe IUGR last time, you might be a candidate for prophylactic heparin or Lovenox theryapy starting early in a subsequent pregnancy. I must admit though, that would purely be 'empiric' therapy - low risk, but no guarantee of necessity or outcome! Best of luck and thanks for sharing your story. Dr T

   

• At Fri Jul 25, 06:23:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous July 24: I have no clue at this point. This could be any number of things. You might have a vitamin B12 level checked and if that is low get screened for pernicious anemia. Please let us know what you find out. Sorry I can't be of more help at this point. Good luck. Dr T

   

• At Tue Jul 29, 05:40:00 PM 2008,  Kati said…

  Hello. I recently suffered a miscarriage at 8 weeks. I also have had an ectopic with loss of right tube in 2006. I requested to see a genetic counseler. The doctor there ordered a thrombophelia profile for me due to my mother having lupus and factor V. The results came back positive for MTHFR C677T Homozygous with homocysteine levels of 15. I spoke with the genetic counseler today who said this wasn't an issue and to just get it checked once a year. Everything I've read online says I should be taking extra folic acid and possibly Baby aspirin. Should I seek a second opinion?

   

• At Sat Aug 02, 06:30:00 PM 2008,  FaceforGrace said…

  We just learned yesterday that we've lost another pregnancy (Our 4th loss). I've had 5 pregnancies in the past 6 years; 4 of which have ended in miscarriage, 1 resulting in a beautiful 9 lb baby girl.
  
  My doctor has been very good and supportive, has run many, many tests and after my 3rd miscarriage we learned that I have Factor V Leiden. Armed with that information, we immeditely started on heparin 2x per day in addition to a baby aspirin a day with this pregnancy, but apparently that wasn't enough to save this little life.
  
  My question is, could it be possible to have Factor V and also MTHFR? The reason I ask is because 3 of my 4 miscarriages were confirmed as loss due to chromosomal abnormality...which from what I am reading seems to go along with the MTHFR.
  
  I have a follow up appointment scheduled with my OB in 2 weeks and I would like to be armed with some information and/or suggestions to present to her. Should I request genetic testing, etc?
  
  Also, if I don't have MTHFR would it hurt me to take additional folic acid prior to and during my next pregnancy? I am desperate to find some answers and to have another baby! Any information you could give me would be a tremendous help.

   

• At Thu Aug 07, 04:27:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kati: Your homocysteine level is not very high, but the treatemnt of choice as a homozygous carrier is folic acid and B-complex vitamins - the folic acid being the most important. The use of aspirin is somewhat controversial, but a single baby aspirin (81 mg per day) is very safe. If you continue to have miscarriages, prophylactic heparin or lovenox can be started as soon as a pregnancy is confirmed (about the time you would normally begina a period). There is still some controversy as to whether or not MTHFR polymorphisms really play a role in recurrent early pregnancy loss. Good luck to you and thanks for reading! Dr T

   

• At Thu Aug 07, 04:36:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To faceforgrace: Yes, it is possible to have multiple genetic polymorphisms and acquired thrombophilias, but if your losses were confirmed to be the result of fetal chromosomal abnormalities, that is your primary diagnosis at this point. Chromosomal abnormalities are STILL the most common causes of pregnancy losses. MTHFR polymorphisms probably do not cause chromosomal abnormalities, but in the case of Down syndrome, may improve there survival! Taking extra folic acid and even the baby aspirin prior to conception is safe enough. You should probably talk with a genetic counselor, but if all the babies you lost had different chromosmal abnormalities, you probably do not need testing on you and your spouse (the genetic counselor can explain why I said that). The best thing you have going for you from the standpoint of favorable prognosis is that you have successfully carried a chromosomally NORMAL baby and apparently had no complications during that pregnancy that would typically be associated with thrombophilia problems. Good luck and please stay in touch over time! Dr T

   

• At Tue Aug 12, 08:10:00 AM 2008,  Anonymous said…

  I recently gave birth to a daughter at 35 weeks, she was under the 11% for gestational age. She died within 36 hours of birth. I am homozygous MTHFR C677T. I recently recieved a copy of my placental pathology report and was wondering if any of the "diagnosis" could be associated with the MTHFR, which we undertreated in the pregnancy.
  A. Focally degenerated and edematous amnion with meconium pigment deposition in membranes
  B. Villous maturation significantly advanced for gestational age.
  c. Multifocal chronic villitis involving 10-20% of the villi examined.
  D. Frequent edematous villi
  E. Near occlusive thrombus in one stem villous vessel
  F. Unremarkable decidue
  G. Three vessel umbilical cord with mild adema and perivascular hemorrhage
  
  I am currently taking baby aspirin, 5mg Folic acid, B6 and B12. Thanks, Emily

   

• At Sat Aug 16, 05:17:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Emily: Those changes are consistent with changes frequently seen with the genetic and acquired thrombophilias. Have you been tested for any others and why was the testing done originally? Do you have any medical problems, history of deep venous thrombosus, stroke, or pulmonary emboli or family history of the same?
  Dr T

   

• At Sat Aug 16, 06:42:00 PM 2008,  Anonymous said…

  Dr. T., I had a full thrombophiliac work up at the start of this pregnancy due to previous superficial clotting in previous pregnancy and known Homozygous for MTHFR. All results came back normal except for the MTHFR. The original testing for the MTHFR was done when one of my 4 sisters was diagnosed as such; thus far 3 out of the five of us are homozygous. I am the only woman in my immediate family not to have miscarried....there have been a total of 11 in our family. Thank you for answering my question, I am trying to better understand that pathology report and this helped. Thanks, Emily

   

• At Thu Aug 21, 07:50:00 PM 2008,  Anonymous said…

  Hello DR T-Michelle
  I found out i have hetero A1298c and am 16 weeks pregnant. found out at week 14 and was already taking natureforte 1mg folic acid in that i beleive and dr at week 14 prescibed 2.5mg of folbic is this enough or is it too late??? I was 41 in June.

   

• At Wed Aug 27, 05:45:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Emily: You're welcome. Thanks for letting me know! Dr T

   

• At Wed Aug 27, 05:47:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Michelle: If you have only one copy of that MTHFR mutation, you are at very low risk for complications and should be well-covered in the folic acid department. Good luck with the rest of the pregnancy and let us know how things turn out. Dr T

   

• At Sun Sep 07, 07:17:00 PM 2008,  Anonymous said…

  Dr. T,
  
  I have had 3 previous pregnancies which all miscarried. I asked my doctor to test me for mthfr and he tested me for lupus anticoagulent and ACA instead. He said that because those test results came back negative, there's no need for an mthfr test. What is the correlation between these disorders? Is he right?
  Thanks,
  Em

   

• At Tue Sep 23, 08:00:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Em: No, he is incorrect. There are both 'genetic' and 'acquired' thrombophilias that can contribute to pregnancy loss. He tested you for two of the more common 'acquired' abnormalities but has not tested you for any of the genetic abnormalities such as MTHFR, Factor V Leiden, prothrombin mutation, antithrombin III deficiency, protein C and S deficiencies and the like. By the way, did you have an chromosomal stuides done on the pregnancies you lost or have you and your partner had these done? Have you had any sort of evaluation of the uterine cavity by sonohysterogram and/or hysteroscopy? Let me know what you find out and perhaps I would have some suggestions on where to go from there. Best wishes! Dr T

   

• At Fri Sep 26, 03:43:00 PM 2008,  Anonymous said…

  hello. Two questions:
  
  1) i've read that having one copy of the mthfr mutation is a low risk for problems. If you are heterozygous for C677T and also heterozygous for A1298C mutations are you considered to have two copies of the MTHFR mutation? Or does having 2 copies of the MTHFR mutation mean you are homozygous for C677T or homozygous for A1298C?
  
  2) Also, are there any statistics or estimates you can give me of how much more of a risk there is with having 2 copies of a mutation as compared to having just one?? thank you for your time.

   

• At Thu Oct 02, 12:09:00 PM 2008,  Anonymous said…

  First, let me say thank you to everyone who has posted and, of course, to Dr. Trofatter for all of your answers. These have been helpful. I have had two miscarriages (one at 5 wks, one at 11wks, the second was caused by a bleed with an unknown source. The baby continued to grow, albeit slowly for about 2 weeks after the bleeding began but eventually miscarried). I had a thrombosis blood work up and found out today that I have a heterozygous mutation of the MTHFR C677T, my Protein S levels were slightly elevated and everything else came back normal. My doc wants me to take baby aspirin and approved the NuvaRing for birth control until I'm ready to try pregnancy again. She said I didn't need to do anything else or even tell them when I was ready to try again, but said that once I was pregnant again, they would refer me to a high risk specialist. After reading your postings, it seems that at the very least some prenatal vitamins and maybe some folic acid would be a good idea, but I wanted to see what you thought of taking that with the birth control? I also wondered if you could shed any light on having the C677T mutation with elevated Protein S (everything else I've read so far states that the mutation puts me at risk for protein S deficiency, so i'm lost). Thanks again!

   

• At Fri Oct 03, 09:28:00 PM 2008,  Sonia said…

  Dear Doctor:
  I had a miscarriage at about 9 weeks with our first try, the my 19 month old son, and my baby son just died at 21 weeks, still born with no known cause. Tissue and all other test prior to death came back fine. Even the FTS, AFP and main ultra sound showed a healthy baby boy. In all the tests, I was found to be Heterozygous for MTHFR with normal homocysteine levels. 2 Periontologists stated that no future protocol was needed in a future pregnancy and that they did not think that a clot was the cause of death. I had a Dand E becuase the dr was afraid of rupture, die to my 1st c section. They stated that I could take more folic acid if it would make me feel better, but since my homocysteine levels were normal, I was fine. I asked about baby aspirin and they both said it was not necessary. One said that if I really wanted to take it that it would not hurt, but he recommended waiting until 14 weeks. Do homocysteine levels change? Do they over ride the risks of having one mutated copy of MTHFR gene? What therapy do you recommend for my situation? I can not go through another pregnancy, with the same horrible outcome, if I can prevent it somehow.
  Please let me know.
  Thank you so much.
  Sonia

   

• At Sat Oct 04, 02:04:00 PM 2008,  Anonymous said…

  Hello again. I have previously posted a comment on july 24th at 2:57 pm. I had asked you if MTHFR c677t and A1298C might have anything to do with a tingling sensation i was experiencing. You responded on July the 25th and said you had no idea but that i might think about getting my vitamin B12 level checked and if it was low to get checked for pernicious anemia.... Well I've since seen one of the few neurologists in our town and he had me get checked for different types of thrombophilia including antiphospholipid antibodies, lupus related things, protein c, and so on. They all came back negative. But one of the tests the neurologist ordered was an ESR (erythrocyte sedimentation rate I believe it stands for). Well when i got the results of it in the mail it had a normal reference range of 0-20. The ESR I had was 2. On the lab result page it said... "The ESR is artificially elevated in anemia and is essentially uninterpretable when hemocrit is below 30%." I have no idea what that means all i can get from it is the word "anemia". Is that what that means? Am i anemic? I am asking you because of your previous suggestion of getting checked for pernicious anemia if my vitamen b12 levels were low. My Dr.'s office wont return my call about my ESR test resutls. since july the tingling feeling has returned off and on for a few days at a time and i still have no answers. the only lead i have is this ESR test that i dont understand. please help.

   

• At Mon Oct 06, 06:54:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Sept 26: If you have one copy of two different MTHFR mutations, you are considered to be a "compound heterozygote." That may or may not put you at greater risk for pregnancy complications or thromboembolic events, but the risk can be greatly overcome by simply taking high dose folic acid and B-complex vitamins. Before you start these, you might want to have a fasting homocysteine level performed. Thanks for reading!
  Dr T

   

• At Mon Oct 06, 07:00:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous OCT 2: There is a very high likelihood that your miscarriages were not caused by the single MTHFR polymorphism. A slightly elevated protein S level is not amything to be concerned about at this point either. Were you tested at all for antiphospholipid antibodies, lupus anticoagulant, or thyroid abnormalitiess? With all that said and done, I would still recommend starting at least a prenatal vitamin or supplemental folic acid prior to conception. This will reduce your risk for any contribution of the MTHFR abnormality to pregnancy complications. Good luck to you. Dr T

   

• At Mon Oct 06, 07:45:00 PM 2008,  Anonymous said…

  Dr. Trofatter,
  I am currently trying to conceive (never been pregnant), and was recently diagnosed with homo MTHFT C677T. I met with a high-risk ob/gyn who stated that when I do conceive, I will need to be placed on heparin. Today, I met with a maternal-fetal specialist, whose opinion was quite different. He stated that there was not sufficient evidence to support the relation between pregnancy complications and MTHFR. He said that since my homocysteine levels were normal (fasting test was 7.2), there was no need for heparin upon conception. I'm very confused now about what course of action to take upon conception. What are your thoughts? Fyi ~ I am an otherwise healthy, 33-y.o., with no prior pregnancies. Thank you so much for your time and input.
  Kristin

   

• At Mon Oct 06, 07:48:00 PM 2008,  Anonymous said…

  Oooops! Make that MTHFR, as opposed to MTHFT.
  Kristin

   

• At Tue Oct 07, 06:04:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Sonia: It is actually quite unlikely that the single MTHFR mutation caused either your miscarriage or your recent pregnancy loss. That means we probably do not know why you lost either baby or even if the losses are related in any way (which they probably are not). The folic acid and a baby aspirin are both reasonable and if ther was any evidence of placental damage, you might even be a candidate for empiric therapy with prophylactic doses of heparin or low-molecular weight heparin (although I would have to think al little more about that before recommending it). Since you have a young child already, one of the conditions that you might contract from a child is cytomegalovirus (CMV) infection. Did they screen the baby you lost for that? regardless, I am sorry for your loss. You have a very good chance of having another successful pregnancy with or without medical intervention. Kind regards, Dr T

   

• At Tue Oct 07, 06:06:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To anonymous Oct 4: Your ESR is NORMAL! That comment on the lab slip is intended for situations in which an abnormal result is found. I know, it is very confusing - sometinmes even to doctors! So, it sounds like we still do not have a reason for your tingling. Have you been evaluated for carpal tunnel syndrome? Regards, Dr T

   

• At Fri Oct 17, 11:09:00 AM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Kristen: Most of the deleterious effects of MTHFR polymorphisms on pregnancy outcome can be overcome with supplemental folic acid and B-complex vitamins. Your MFM doctor is correct - at this point you do not need heparin therapy (not that you couldn't end up on it at some point - but we will cross that bridge when we come to it). Your primary problem, however, is just getting pregnant, so work on that! Best wishes and let me know if you have any other questions. Dr T

   

• At Sat Oct 18, 07:08:00 PM 2008,  Sonia said…

  Hi Dr, Thank you so much for all your knowledge.
  You replied to my previous question, regarding being hetrozygous for MTHFR and losing my son at 21 weeks pregnant. 1st pregnancy was a miscarriage, 2nd was my healthy 20 month son and this 3rd preg. was a stillbirth.
  My question is, should my husband be tested for the gene and if he is hetero or homo for mthfr, does that effect our next pregnancy? Will it up the chances for a clot...Right now, both Periontologists said, since my homocysteine levels were normal, no protocol is needed in a next pregnancy. I am taking the extra Folic Acid, just to be safe. A hemotologist suggested that a baby aspirin will help me for life bc of my family history of heart disease, but then looked up aspirin in his book and said it was catagory d and I should not take it while pregnancy.
  How do you feel about baby aspirin in addition to folic acid. Should one take it preconception, through pregnancy or wait until 14 weeks?
  Can it harm the baby at all.
  I want to do whatever possible to make sure we have a healthy outcome next time.
  Sorry for the long email and thanks again for all your help.
  Sonia

   

• At Wed Oct 22, 04:50:00 PM 2008,  Kenneth F. Trofatter, Jr., MD, PhD said…

  To Sonia: Your husband's MTHFR status should not affect your risk for clots. Aspirin has been used widely in pregnancy and the greatest risk seems to be a slightly increased risk for placental abruption. At this point I could not recommend that to you based on your history alone, but if you did take it, I probably would suggest stopping it by 24 weeks if all is going well. I don't think you need it preconceptionally. Best wishes. Dr T

   

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