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Questions? MTHFR C677T & A1298C plus others

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    Questions? MTHFR C677T & A1298C plus others

    Help? What does it all mean? I recently lost a beautiful healthy little girl at 17 weeks when I had PROM. My OB wanted to run a panel of tests and these are the results that have come back
    MTHFR C677T
    MTHFR A1298C
    Raised protein C activity 151% (normal 70-140%)
    Raised thyoid peroxidase autoantibodies 101 /mL (normal <60 U/mL)
    Also Protein S activity was 139% ( normal was 65-140%) so maybe nothing to worry about.

    My question is they haven't found anything else wrong with the baby so how could having these problems cause me to PROM. They don't think it was IC either. Plus it was 48hrs from PROM to deliver and there was a heartbeat for the first 36hrs.

    Any help answering my questions would be appreciated. I have been TTC for 5 rs now and this was our 9th IVF and 2nd m/c. I felt I knew everything about IVF but now this immune stuff is a whole new ball game!! You guys all seem to know so much.


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    I'm so sorry on your recent loss ...it does look like you are battling some immune issues.

    The weak positive (high end) Protein "S" & "C" along with the MTHFR mutations all point to a clotting issue. The doctor should know to tell you in testing these factors now that you are likely looking at a usage of high dose Folic Acid and B vitamins (usually women with MTHFR are prescribed Folgard -name brand vitamin for this condition) and also you would benefit from the preconception and entire prg. usage of heparin injections along with a daily baby aspirin. Many women with MTHFR also take the daily baby aspirin for life as it has genetic abilities to cause clotting problems and heart risks even for you in later life.

    Here is what I can give info. wise for the MTHFR stuff. Also, I would strongly recommend that you get proper panels of testing done that would be much more encompassing than those your doc took to find out exactly what auto-immune issues may be present. A proper RI doc will also look at your history of loss (including a later term loss) and would go with that and results of any testings to prescribe the proper sorts of immune meds (ie., it may be necessary for you to get on IVIg preconception or once or twice during a prg. as well).

    Here is the info. about MTHFR that another girl here once posted:

    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.

    OH and the following info:

    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 truly hope that this helps get you thru to the next stages where you will seek and be put on the right sort of meds to make this type of sad loss NOT happen again.

    We are here for any more questions you might have...
    take care,
    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... :

  4. #3
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    I am so sorry for your loss! I received the Dx of Compound Hetero MTHFR (one A & one C mutation) in November and spent a while on these sites. Much of the info. is scary & depresing. Just thought I would off-set it. I am on Lovenox, Prednisone, Baby Aspirin, Folgard, Natal-eze and Viactiv. I am also 40, have had 2 mc's and an 17 weeks pregnant w/ a healthy boy Find a Dr. that believes in Lovenox. The shots aren't fun... but I just think of it that, "every day I GET to take a shot- is one more day that I am pregnant". It IS possible!

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