Readers' Questions Related to MTHFR Polymorphisms

27 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

   

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