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Test Results -Postive MTHFR Hetero C677T

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  1. #1
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    Test Results -Postive MTHFR Hetero C677T

    Hello All,

    I don't post much on this board, but since I got my autoimmune/genetic results back and had everything come back normal (thank god) EXCEPT for this one issue, I thought I would see if there was any help or information out there....

    I tested Postitive for Heterozygouse MTHFR C677T and negative for the A1298C....what does this me???? For me...for IF....for my overall health...health of my future babies (god willing ).???? I'm lost and confused about where to go from here.

    My local RE says that we will add Lovenox to my next cycle and I'm waiting on my Seattle RE to look it over as well.

    I appreciate any and all help from you super smart ladies

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    Hi Jeppy, I just posted to you on the above thread where you have some expertise advices coming at you (particular with Lauren who doesn't post much at this time due to her condition of currently being 8 mos. prg.!!) ---see you should give yourself much encouragement for having found something to be treated and to lead to a potential strong prg. and baby for you!!

    here is some info about MTHFR that I cut from one of Lauren's other posts - you shoudl search feature on the Immune Issues boards to find all the other discussions there about it -and pls. do come back and post there -there are many women dealing with the same issue there who have experience and who have had successful prgs. also!

    here is one of Lauren's posts below:
    I am also compound heterozygous (one of each mutation, like you.) The meds you described should be your daily regimin for the rest of your life. After having your baby/ies, you would switch from pre-natal to a women's multivitamin. Has your doctor discussed the use of Lovenox with you? If not, please bring that up for consideration. Also, did your doctor run a FULL antiphospholipid antibodies panel (includes at least 18 different results.) If not, please insist on that as well. Many MTHFR patients also have Antiphospholipid Syndrome (I do.) If you have both, it's basically a guarantee that you'd need the Lovenox (injections of low molecular weight heparin) throughout the pg to prevent clotting.

    In a nutshell, MTHFR mutations interfere with the body's ability to absorb folic acid. Folic acid deficiencies for babies can cause neural tube defects like spina bifeta (sp?) So it's very, very good that you learned about this and can now give your future babies the right amount of folic acid in utero. In addition, lack of folic acid can cause clotting-related problems. Since the teeniest, tiniest blood vessels are in the uterus, you can have microscopic clots that don't harm you, but cut off the blood supply to the embryo/fetus. This can cause implantation problems, m/c, or even stillbirth. So properly treating your MTHFR is critical.

    MTHFR is one of several different kinds of inherited thrombophilia. (Antiphospholipid Syndrome is acquired thrombophilia.) Please be sure to have your parents and siblings tested for MTHFR mutations as well. If positive (both of mine were: one with the C mutation, the other with the A), then they should take baby aspirin and Folgard as well (one Folgard per mutation.) Your future baby/ies will be fine; just be sure to give him/her/them a children's multivitamin and later extra folic acid, too.

    There is controversy as to the importance of homocysteine levels when it comes to MTHFR mutations. Some doctors say:

    MTHFR causes folic acid deficiency, which causes elevated homocysteine levels, which causes clotting problems, which causes IF or m/c troubles.

    Other doctors say:

    MTHFR causes folic acid deficiency, which causes clotting problems, which causes IF or m/c troubles, which may or may not cause elevated homocysteine levels.

    My own doctor does not concern himself with homocysteine levels; he prescribes Lovenox for MTHFR mutations regardless. He is in the camp that says that homocysteine levels (particularly pre-pg) are not an accurate predictor of clotting troubles.

    Baby aspirin is a blood thinner (relatively mild). Lovenox (low molecular weight heparin) is an anti-coagulant (slows clotting.) They have two very different functions in the body. Your doctor may or may not want you to use both. Many, many women on this board have used both, and many have had success that way.

    & another member's info on the basics of MTHFR:
    MTHFR - stands for Methylenetetrahydrofolate Reductase (in a mutated form when talking about it in these specific cases) - Not that you'll ever really need to know that. Non mutated MTHFR is one of the leading regulatory enzymes of homocysteine metabolism. Homocysteine metabolism is an extremely important factor of our metabolic systems. This process touches many aspects of our general health and is therefore very important. The MTHFR Mutation is an enzyme that hinders this process. The mutation of the MTHFR gene is in direct connection with hyperhomocysteinemia (High or elevated levels of homocysteine). High levels of homocysteine can be attributed to many conditions such as:Vascular Diseases, Complicated Pregnancy Due To Neural Tube Defects, Atherosclerosis, Rheumatoid Arthritis, Downs Syndrome, Alcoholism, Osteoporosis, Neuropsychiatric Disorders, Non Insalin Dependant Diabetes, Early Pregnancy Loss, Spontaneous Abortion (Viable Fetus), Placental Abruption, Low Birth Weight & others... So as you can see it can be very imporatant. MTHFR mutation can be homozygous or heterozygous, with more people being heterozygous and carrying only one MTHFR mutated gene. Homozygous of course can cause more issues and become more serious. It's a fairly easy thing to test for by checking homocysteine levels in the blood. As far as I am aware the treatment consists of simple vitamin supplements --- a combination of Folic Acid, Vitamin B-12, Vitamin B-6 and TMG (Tri-Methyl Glycine).

    I hope this helps Jeppy.. pls be encouraged it sounds like you could be on the path to success in short time here!
    TTC #1 for 5 + yrs (multiple losses)
    -IMMUNE ISSUES -used IVIg/Heparin&BA/Prednisone
    -SUCCESS: DS Travis-James born Jan 2/03
    -TTC #2 - 2 more angels
    -Feb/06 had LIT immune tx. - now... :

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    This is a very controversial topic with research to support both sides of the argument including this article that found not link and the discussion of all the theories at the end from About.com:

    British Journal of Haematology
    Volume 105 Issue 1, Pages 98 - 101
    Published Online: 11 Mar 2005
    © 2009 Blackwell Publishing Ltd

    The C677T MTHFR gene mutation is not predictive of risk for recurrent fetal loss

    We have investigated the potency of the C677T mutation in the methylene tetrahydrofolate reductase (MTHFR) gene as a genetic risk factor in women with a history of early (12 weeks gestation) and/or late (>12 weeks gestation) recurrent miscarriage (three or more consecutive pregnancy losses). Fifty-seven of the total 173 (32.9%) patients were heterozygous for the MTHFR mutation, 14/173 (8.1%) were homozygous (allele frequency 0.25). The prevalence of the MTHFR mutation in these women did not differ significantly from that in the control group of parous women with uneventful pregnancies, where 30/67 (44.8%) were heterozygous and 6/67 (9.0%) homozygous for the mutation (allele frequency 0.31; odds ratio for homozygous T/T 0.90, 95% CI 0.30–2.4). There was no association between the trimester of pregnancy loss and MTHFR genotype. We conclude that the C677T MTHFR mutation is not a risk predictor in women with a history of early or late recurrent miscarriage.


    Theory One
    In the camp that favors MTHFR genes as a possible miscarriage risk factor, the theory often centers around the idea that because MTHFR mutations can cause elevated homocysteine, which increases risk of blood clots, an MTHFR gene mutation should be treated as a hereditary thrombophilia.

    Many doctors believe that hereditary thrombophilias, such as Factor V Leiden, may increase the risk of miscarriage by creating tiny blood clots that block nutrient flow to the placenta and so they include MTHFR gene mutations in this category. However, hereditary thrombophilias are not universally accepted as a cause of recurrent miscarriages -- the only thrombophilia disorder with a widely accepted treatment is antiphospholipid syndrome.

    Doctors who follow the theory of MTHFR variations as a thrombophilia disorder may prescribe anti-clotting therapy such as heparin and low dose "baby" aspirin to reduce the risk of blood clots. Others may recommend high doses of folic acid and possibly other B vitamins with the idea that this will reduce homocysteine levels and eliminate any added risk on that front.

    In doctors who believe in treatment of women with MTHFR gene variations, some believe in treating women who are heterozygous as well as homozygous, whereas others only treat women who are homozygous.

    Theory Two
    Other doctors do not test for MTHFR gene mutations at all because the link is far from conclusively proven, but they choose to test homocysteine instead and recommend therapies for women with high homocysteine levels.

    Still other doctors (and probably the majority fall in this category) do not test for either MTHFR or homocysteine because neither has a formally recommended treatment that is solidly shown to reduce the risk of miscarriage.

    Where it Stands
    With all of this in mind, MTHFR gene mutations definitely fall in the category of being an unproven cause of recurrent miscarriages. Researchers are uncovering new information all the time, and certain MTHFR gene mutations may ultimately be proven to play a role in miscarriages or the link may be ultimately ruled out.

    The research is increasingly pointing to high levels of homocysteine, or hyperhomocysteinemia, as being the more likely factor involved in miscarriages -- and many researchers feel that this will ultimately explain the past studies that have found an association between MTHFR gene variants and likelihood of miscarriages. Homocysteine can also be elevated for other reasons beside MTHFR gene mutations. Further research will hopefully clarify the link between homocysteine levels and miscarriage as well as what treatment works best for this condition.

    In the meantime, if your doctor treats for MTHFR or homocysteine, be sure to direct any concerns you have about the the treatment to him or her.

    Similarly, if your doctor does not test for MTHFR gene mutations, the reason is probably because of the lack of conclusive evidence about the value of doing so. But if you are concerned, it doesn't hurt to bring the matter up and hear your doctor's reasons behind his opinion.

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