MTHFR questions

[sjr0328]

I need some help here. I was diagnosed with MTHFR homozygous mutation after 1 m/c in September. I went to see a specialist today, she told me that I don't have a clotting disorder and that this has no relation. I, however, DO NOT AGREE. She also told me she did not consider me high risk after simply 1 m/c and that it could have happened for a myriad of reasons. SHe told me that all I had was a folic acid problem. She gave me a prescription for folic acid and Vit B100 Complex. After challenging her about the lovenox and the literature, she told me that there is no 'evidence based medicine' for lovenox use during pregnancy for homoz mutation women. I asked her, "Exactly what does someone have to do, have 4 maybe 5 m/c for you to perhaps consider putting them on some kind of an anticoagulant regimen?" She really didn't like my comment and told me to go back to my ob/gyn and see if he would give it to me. Cause she was not going to.

My family members and my husband think I should just listen to this doctor and go on my merry way. They think that the 'specialist knows best.' But, being a physician assistant who has dealt with physicians for alittle while, I know they do not know everything especially when it comes to this disorder. There is a lot of room for thought and different schools of thought.

Should I get a second opinion? I need some help here.

[Taffers]

sjr: Have you been tested for any clotting/blood disorders? With my MTHFR testing, my RE tested me for clotting issues (b/c I requested to be put on Heparin, and he requires that you have a clotting disorder to prescribe it), and I was all clear as far as clotting and/or blood issues. Just like your doctor, my RE told me it was NOT affecting me getting/staying pg, and it had only to do with the fact that my body does not properly absorb folic acid, so he put me on a folic acid supp and a folic/B vitamin supp.

Most doctors will not put you on Heparin/Lovenox if you do not have a specific clotting disorder b/c if you don't, and something happens to you causing excessive bleeding/death, they can be held liable.

If you are not comfortable with what your doctor said, definitely get a second opinion.

[LeslieT]

First, PLEASE always go get a second opinion if you are not comfortable with what your doctor is saying. Especially since you are a physician's assistant and know the "inside scoop", and are not comfortable with what this specialist is saying, I would definitely go see another one.

I will tell you my experience with Heparin, having a "fringe" clotting issue like you. Mine was slightly elevated levels on the Lupus Anticoagulant test, and I had elevated homocysteine levels. Clotting issues yes, but it was questionable on whether it was strong enough to need Heparin or Lovenex, versus just treatment with Folic Acid, Vitamin B6, Vitamin B12 and low-dose aspirin (which is what I'm on now daily and will be for the rest of my life). My RE decided to go ahead and start me on a low dose of injected Heparin rather than the other regimen, just in case on the clotting side. This was at about week 6 or 7 of my last pregnancy, and I was on the Heparin until my Nuchal test with the Perinatologist at 11-12 weeks. When they drew the blood that was part of the Nuchal test, my blood was DRIPPING out of me like water onto the floor, it had thinned so much from the Heparin. And it took a very long time to clot. My Peri decided right then that because it had been a borderline call, to take me off the Heparin...it had thinned my blood down to a dangerous level if I had been in an accident. I would very likely have had massive hemorrhaging, potentially fatal, from the lack of clotting my blood now had from the Heparin. They started me on the Folic Acid/Vitamin B6/Vitamin B12/Baby Aspirin regimen instead. My pregnancy continued to full-term after 2 previous miscarriages.

I know that MTHFR is different from Lupus Anticoagulant & Homocysteine issues, and I have to admit I know very, very little about MTHFR. But if your 2nd opinion also thinks that the similar tablet regimen I'm on for my clotting issue would be enough for yours (I think that's what your specialist was describing), without thinning your blood down dangerously when it doesn't need that much of a thinner, then it might be worth considering. I know that the tablet regimen made a big difference in my clotting levels, without the injectables. It might for MTHFR too. And it wouldn't put you at risk for massive hemhorraging if you're in an accident...I'm sure that's what they're worried about.

[triple-j]

Sharing my situation -- hope this helps!

I have a cousin who has MTHFR who had a clot and was seriously ill. She is on coumidin for the rest of her life. Since we went to the same OB, when I was ready to get pg, they had me tested. This was October of 2007. Here's my results:

Factor V Leiden: no mutation detected
Prothrombin 20210AA: no mutation detectedMTHFR 677 (C->T): no mutation detected
MTHFR 1298 (A->C): heterozygous (one normal and one abnormal allele present)
PAI-1 genotype: homozygous (both alleles abnormal -- 4G/4G)

In the midst of all this, I had m/c #1. (Christmas 2007). I saw a RE who was only interested in infertility and a total waste of time. Then, at my cousin's reco, went to a hematologist who ran a bunch of tests. Everything else came back normal and he recommended folic acid and baby aspirin for the rest of my life and no need to see him again. (Which was a relief.) In January, I went to a high risk OB for a consult (at reco of my OB, the hema, and the RE.) He felt that it was premature to put me on a lovenox or heparin regimin based on 1 m/c as 20% of women m/c naturally. BUT, he did offer me another option -- metformin. (Which is generic glucaphage, an oral diabetes med.) His feeling was why stick myself 2x a day with a needle if it wasn't neccessary? It's definitely off-label use for metformin, but I guess there have been success using with PCOS. 2 weeks later (and before I could start the meds), I had m/c #2 -- BUT it was at 4 weeks and we got pg right after m/c #1 so my body might not have been ready....

ANYHOW, on to the success story...... I got pg in March and am now at 32 weeks. Both baby and I are perfectly healthy. I have not taken any injections, just the tablets noted above. Only complication we've had is that I have full previa and will need a c-section but this is completely unrelated to the MTHFR.

So, please be sure you get multiple opinions and in the end, do what you feel is best for YOU.

[sjr0328]

thank you, i appreciate the comments and the thoughts. Here is my latest thought:
As far as my little problem, I am still not sure what to think. If only MTHFR mutation is homozygous and homocysteine levels are normal, does that indicate that there only needs to be a folic acid increase in intake? But, here is my dilemma......homocysteine levels rise with pregnancy, folic acid decreases these levels. So, my hypothesis is this....since my body did not metabolize folic acid well from the first pregnancy (but we didnt know i had this mutation), then homocysteine levels rose (while I was pregnant-nobody checked so this is totally my guess) and began the clotting cascade which led to m/c.



So, I guess I am wondering....for next time...even though lovenox is not warranted by this so-called specialist, shouldn't I be getting blood taken per week when I become pregnant again to make sure that homocysteine levels are low and folic acid levels are high? hummmmm.......this is something that I would like to propose to the ob/gyn. Because as of now, yes, my homocysteine levels are below the range or abnormal, but what if they WERE NOT normal while pregnant, and that is what did it. I wonder......

This is something that I feel more comfortable in doing. I understand that there is a lot of controversy in administering lovenox or heparin. They have a lot of side effects and risk factors. I am very much aware of this fact. And with all due respect to the medical community, I just sometimes feel like they are not gods. They tend to think they are though. And by no means do I think I know everything because I am a PA. I dont know squat of nothing. I am just graduating this December and dont know much. But I feel that I am well educated and know where I can find the tools to figure things out, espeically when it has to do with my health care and the welfare of my baby.

So, I dont know at this point what to think, or what to do. I am confused and unfortuantely, it's at the expense of this doctors believing that just 1 m/c doesnt classify you for anything. Perhaps they should try having m/c's and D&C's time and time again and see how it feels. Sorry to sound so disgrunteled, but working with Dr's these days. They make a lot of mistakes, and PA's and NPs and nurses do too. WHich is why you cannot trust everything sometimes and you have to look out for you too.

[OrangeMood]

Hi All,
I was diagnosed with MTHFR A1289C mutation, homozygous. Not C677T. My homocysteine is normal.
My RE doesn't want me to take any additional meds aside from PreNatals and aspirin after agg retrieval.
Does this make sense? I'm worried...
Thanks!

[BREEZY]

OrangeMood- I only took pre-natal and BA when I got pg with My DD...it worked for me! I was more than skeptical about it and completely surprised when it did the trick. Good luck to you!

[OrangeMood]

Thanks Breezy Did you take BA when you started stimming, after ER or when you got pg?

[BREEZY]

[QUOTE=OrangeMood;7060043]Thanks Breezy Did you take BA when you started stimming, after ER or when you got pg?[/QUOTE

Actually....after 7 years of TTC, 2 IVF's and 1 FET all resulting in MC's. I ended up getting PG naturally and staying PG. My RE never even checked for immune issues,it was my OB that found it. She started me on BA right away and I am still on it. I stayed on it for my entire PG'y and stopped 1 week before my c-section. My situation may be a little different from yours,but keep your head up honey....it will happen! If you have any more question's feel free to PM me