MTHFR

[Anonymous]

I just had a second miscarriage and after a slew of blood work they told me I have a blood clotting disorder caused by a double mutation on the MTHFR Gene. The doctor told me to take baby asprin and extra folic acid and next time I get pregnant they will show me how to give myself a shot (a blood thinner) once a week for the length of the pregnancy. I was wondering if anyone else has any advice on this double mutation I have only just heard about for the first time. The idea of a shot once a week frightens me, not because of the pain, but because of the implications for the baby and risks of blood thinning too much. Any advice?

[Anonymous]

I do not have this condition myself, but it sounds like what someone I work with has. She is pregnant now with her second child - first is about 16 months old - and gives herself daily shots of a blood thinner. (She had at least two miscarriages before being diagnosed.) She did the shots/baby aspirin throughout her first pregnancy too until about 6 weeks postpartum. She and her son are absolutely fine - and she is having an easy and healthy second pregnancy. Best of luck!

[Anonymous]

OP, I am currently 30 weeks pregnant and have two clotting problems - a double mutation with MTHFR, like you, as well as a factor II mutation. As they were explained to me (I'm a lawyer, SOOO not a doctor!) both of these mutations/problems cause my body to want to clot more than it should. When you are pregnant, your body naturally increases its clotting factor, so the mutations plus that natural tendency can be bad news.

In my case, I was not diagnosed pre-pg, but diagnosed after experiencing some pretty scary problems late in my first trimester. It is my understanding that the treatment is injections at least daily - I am currently on Lovenox twice daily, and other message boards w/ individuals with clotting problems have individuals with similar regiments (I belive that MTHFR is not as "bad" as some other problems, so perhaps that is why you would not need as intense treatment? But I won't speculate). To be honest, the shots stink - a lot. I have a new found respect for diabetics and others for whom daily shots are a way of life. THat being said, I am "used" to them, and they are worth it - I would stand on my head for 40 weeks if it meant I had a healthy baby at the end!

Regarding your concerns for blood thinning too much, again, I am not a doctor, but can advise you that you should trust yours to know what s/he is doing! I have my blood clotting/thinning levels tested periodically to make sure I am on the right "intensity" of Lovenox - the first does they prescribed wasn't high enough, so now I am at a higher dose. I am also seen monthly at Greater Washignton Maternal Fetal Medicine and Genetics (I can't say enough good things about Dr. Pinckert!) for ultrasounds to monitor my little one's growth and make sure there are no complications from the clotting issues. As far as real-world implications from having "thin" blood, I can honestly say I haven't noticed a difference. I bruise occasionally at my injection sites, but I have gotten the occasional bump or scrape and haven't thought "OMG! I am hemmoraging!"

Good luck to you! Please let me know if you have other questions!

[Anonymous]

To the PP, I am not the OP but have some questions for you if that is ok. I am in the process of seeing specialists to figure out whether or not I have a clotting disorder. I am not currently pregnant but lost my first baby at 37 weeks and then recently had a second baby who had to be delivered early due to IUGR (placental clotting). So far, all of my bloodwork has come back normal but I have yet to be tested for MTHFR. So, my questions... Did anyone in your family have any of these disorders? Are you being seen by a hematologist to test the "thinn-ness" of your blood? If so, who? Have the doctors told you what the implications of having this are for your post-pregnancy life? (ie do you have to worry about blood clots and do you have to remain on any kind of treatment?)

Thank you so much-- I have so many questions for someone who is going through this-- it is most likely that I will have to do the lovenox injections in my next pregnancy.

[Anonymous]

PP, of course I would be happy to answer your questions. First off, I am sorry for your loss and hope that your second child is doing okay!

It turns out that both my mother and my father have the MTHFR problem - mom has two problems like me with it, dad has one. I will say, however, this was not known beforehand - when I got the results of my bloodwork back, I reported to my parents who thought it would make sense to get themselves checked out. (My mom also had a blot clot in her leg a couple of years ago following surgery, which I pointed out to my perinatologist who said that could definitely suggest that I have a clotting problem too (this was pre-test results)).

I am not being seen by a hematologist, but like I said to PP, when I started the Lovenox I got my levels tested to check clottiness (not sure what the medical term is...) and ultimately had them adjusted to work out a proper dose. I am getting my levels tested again in a couple of days, but typically when they find a dose that "works," testing is not very frequent.

(Anecdotally, my mother was have problems in her leg that the doc thought could be due to her clotting issues, so he has her on a low dose of coumadin (pill blood thinner-unfortunately pg women can't take bc it passes through to the fetus, so we get shots!) daily - his plan is to be preemptive about making sure she doesnt get another clot. That is all through her hematologist - he has her levels to a point that hes happy with them, though, so I think she only gets tested every few months?)

As far as continuing teratment for me, once I am 4-6 weeks post pardum, I will get off the Lovenox (although now that I know I have these conditions, if I have future surgeries, I will have to tell the docs who may put me on the thinners post-surgery to prevent clotting issues). Like I told PP, my doc advised that the Factor II was the more "serious" clotting problem. Regarding MTHFR, the course is to just make sure I get enough folic acid daily (most people can achieve through normal healthy eating, esp since so many things are fortified nowadays. However, many docs recommend taking a folic acid pill daily, or making sure your multivitamin has a certain amount in it). The info my doc gave me advised that people with MTHFR problems have slightly higher risk of stroke issues, but that general "healthy living" is the advised treatment for protecting against that. Finally, for future children, the doc will probably recommend a course similar to OP's for TTC, and then I will be put on the Lovenox injections again.

Please let me know if you have any more questions. I was having such problems before being diagnosed- scary trips to the ER, etc. - that it is so nice to have things be "normal" now that I am on the Lovenox.

(One tibdit re Lovenox however- you CANNOT get an epidural while on the Lovenox. As a result, I have an induction schedule for a week and a half before my estimated due date so that I can get off the injections 48 hours before being induced. I've been told that if I go into labor while on the shots it is not a concern in terms of my health or the child's - the Lovenox has a half life of 12 hours, so it doesnt stay in your system *that* long to thin the blood - but anesthesiologists are uncomfortable inserting an epidural in the spine while a person is on thinners due to a small risk of paralysis/complications. So the treatment does make induction inevitable (even if I was inclined to do a natural childbirth and said I didn't care about an epi, they still want you to be off the thinners if possible for birth, and in the case of the need for an unplanned c-section, a person on the thinners would have to be under general anesthesia - again, no epi). I'm not thrilled about that, but again, if that is the tradeoff for having a healthy baby, I am fine with that.

[Anonymous]

OP: Are you homozygous or heterozygous? And for which one, .e.g, 677T or A-something? I think that makes a difference....

[Anonymous]

There is a great forum at www.preeclampsia.org. The TTC and HELLP threads have lots of people in the same situation. It is such as great support group. I could not have gotten through 2 severe PE pregnancies without it. Many good suggestions on dealing with the shots.

Has your doctor discussed the increased risk for PE/HELLP? The MTHRF mutation increases the chances for early onset during the second and third trimesters. It is good that you are getting the injections.

[Anonymous]

TO those on Lovenox, are you homozygous? Hetero? Compound hetero? Thanks...