Mthfr???? - Bel Air,MD

Well since I thought this stood for a pretty nasty swear word I can't say what the next step is. What does it stands for.

For Sherry: MTHFR stands for methelenetetrahydrofolate reductase; MTHFR is the official symbol for this gene, which provides the instructions for making this enzyme.

I also tested positive for 1 MTHFR mutation. My doctor (here in Oregon, there may be different laws in your state) said that she could not treat this with supplements (as they aren't medicine) and that I would need to see a naturopath instead for supplements. So it would be good for you to find out if your doc would be allowed to help you with this or if you, too, need to see someone else. I had at least three known miscarriages (and lots of late, heavy periods as well, so those may have been miscarriages) and have one child. We will have to have him tested when he's old enough to do a blood draw and not freak out. (he's six, I think we have some time)

My sister was the first in our family to be diagnosed. Both of her parents (we share a dad) also have this. She suffered from two miscarriages and has three healthy boys. Her problem manifested in always being tired all of a sudden. Her naturopath helped get her on the road to feeling better. My guess is that a specialist will give you the best information possible. I'd also be cautious about what you find online... I've seen some sites where the "information" they share is largely speculative and anecdotal.

FWIW, when I went in to ask my doctor about this testing, I had printed out information for her because she really didn't know much at all about what it was. So, be prepared and try to get as much factual information as possible; avoid the scary stories, too!

As others have mentioned MTHFR is an enzyme that plays an important role in folic acid metabolism. Although we usually ingest folate in one form as a vitamin (or in food), in your body it is converted into several different chemical derivatives each with a specific function - it is a very complicated and interesting vitamin.

Anyways, MTHFR produces a special form of folate (5-methyltetrahydrofolate) that then plays an important role in metabolism by converting homocysteine to methionine. When the function of MTHFR is reduced homocysteine levels rise, known as a condition called hyperhomocysteinemia.
It is believed that this condition (not simply having "a" mutation in MTHFR) that is associated with higher levels of inflammation, increased risk for heart disease and miscarriage among other issues.
There are at least 20 known and described mutations of MTHFR, only two of which are relatively well researched and only one of these two is known to be associated with higher homocysteine levels. Testing your homocysteine levels can be a good next step.

That being said we know next to nothing about what effect the other 19 mutations in this enzyme may have, just that they are not necessarily related to lower enzyme function in vitro... many unknowns. MTHFR mutations have been correlated with everything from heart disease to alzheimers... research is ongoing and there is no clear picture what they really mean as of yet.

There is no accepted treatment for MTHFR mutations and the mechanisms by which they may be increasing the risk for miscarriage are not very well understood. It could be related to higher levels of inflammation, not enough 5-mTHF available to support proper embryonic development...and a bunch of other things.

So what to do with that knowledge that brings up more questions than answers?
First of all your doctor can now narrow in on other tests to run: homocysteine levels, inflammatory factors, blood clotting... etc. and treat any finding symptomatically.

Secondly many doctors do suggest that you take vitamin supplements. Particularly B6, B12 and Folate - methylated versions of these vitamins are freely available, they are just more expensive than the usual stuff you get at the supermarket. Your doctor can recommend a brand. At this point in time any treatments and supplementation regiments are a shot into the dark and even the specialists operate on little more than educated guessing and gut feelings. They won't tell you but it's true.
I am not saying not to try it, just that there is very little scientific evidence what works and what doesn't and if anyone tells you they have a "silver bullet" that will guarantee you a healthy pregnancy... they are lying.

Last but not least, I personally would proceed with TTC and not wait out months for more tests. This is a factor in miscarriage that is poorly understood to say the least and for which there is no accepted treatment that is scientifically proven. Even with supplementation and medication there are no guarantees that you will not have another miscarriage.

It is also absolutely possible that your miscarriage had NOTHING to do with MTHFR at all. Twin pregnancies have a higher risk of miscarriage as it is, I don't know when you miscarried (at what stage of pregnancy) and how old you are, or if you had other testing done (particularly genetic testing on the fetuses, placenta or if you where far into your pregancy an autopsy) but age and chromosomal issues typically play a much greater factor in your risk for miscarriage than the MTHFR mutation.

The biology of pregnancy failure (or success) is just as poorly understood as the role MTHFR plays in it. So I wouldn't be holding my breath for a magic treatment... but that's just my personal opinion of course.

Good luck.

Hi. I'm so very sorry about the loss of your twins. I have four losses myself so I understand your pain. Your OB will likely know very little about MTHFR defects. You need to see a hematologist to have more tests run but if you only carry one defect on the gene roughly 40% of Americans are estimated to carry one defect so it may not be the cause of your loss. Even with one copy of the gene affected you need to be on methylated B vitamins and Folic acid. Your body can't use supplemental B vitamins because you can't break them down. Homocystex is a very good supplement. Also look into Metanx ( only with a prescription). Please disregard people telling you to increase Folic acid. It's meaningless to you as your body can't use it. Folic acid and b vitamins MUST be methylated for you to use them. You need to have your homocysteine level checked frequently and must achieve a low number before you TTC again. It should be 5 or less. Get the book THe H Factor by Patrick Holford. Honestly, people who carry MTHFR defects know much more then most MD's about their defects. Many people in medicine still believe MTHFR defects do not increase your miscarriage rates. I do not agree. I know many women with 2 gene defects take blood thinners throughout their pregnancy. Your hematologist will be able to guide you with that. Educate yourself. There are 40 mutations so far discovered on MTHFR. Know your defect. C677t and A1298c are the most common and become more severe if you have any other health problems especially auto immune problems. Join an on line group. Try Lovely Lovenix Ladies through yahoo. Mthfr.net is a very helpful site. I wish you many blessings for a healthy baby. :)

If you google gene mutation MTHFR, there is a lot of information out there, and a lot of it is scary. There are also at least 40 mutations related to MTHFR. You OB is right to refer you to someone who has a better understanding. Before you start trying to conceive, visit with a genetic counselor who can discuss your tests with you and give you a better understanding of what this means. Since there are so many mutations, someone else's experience might be different then yours. Why did you have the genetic testing done?
Good luck!

You will get way more information about MTHFR from a specialist than you will from a regular OB. There has been much more information discovered about it within the last five years.

I was diagnosed with one of the mutations about six years ago when I was pregnant with baby #2. I had already had one miscarriage, and my sister had just given birth to a full term stillborn baby. My sister also tested positive for MTHFR, although her doctor told her it most likely wasn't the cause of her baby's death.

Because of my diagnosis, I was given more testing and ultrasounds when I was pregnant with #2. By the time I was pregnant with baby #3 about three years ago, the new protocol was to treat my pregnancy like any other pregnancy, because my MTFHR diagnosis was one that wasn't considered high risk. My memory is foggy, but I think I read somewhere that up to 40% of the population has some form of MTHFR. If you do indeed have the mutation that causes stillbirth, I think it is a matter of taking extra folic acid and low dose aspirin while you are pregnant. But your doctor should be able to tell you more.

Good luck to you. I am so sorry about your twins.

As someone else pointed out, there are many variations of mthfr...... some are related to different problems in pregnancy..... my brother has one that is related to memory. I believe there is also one related to ADHD type symptoms, and also one related to pre-eclampsia...

So... long story short, just because they say you have 1 gene mutation of mthfr, don't start freaking out now... see a genetic counselor and they can tell you what you are dealing with.

If I remember correctly, over 30% of the population carry one of the mthfr mutations.....

Also... are you a carrier, or do you have 2 copies of the mthfr mutation? It is more serious when you have 2 copies, I believe.....

I don't have it and I don't know anything about it, but it did find this with a google search ...

http://www.stephenwellsmd.com/mthfr.htm

Looks to me like there is a treatment and it's a fairly simple one at that, but I suggest seeing the specialist is a good call.

My brother has it. He also has factor V Leiden mutation. He is on blood thinners for clotting issues. I know factor V is a clotting mutation. Not sure how the MTHFR fits in. I do not have the MTHFR, but I do have factor V and am on baby aspirin every day. I have no history of clotting and have decided not to try for any more pregnancies because of it. It would have been do-able. I just didn't want to risk a possible clot or risk taking heparin.

I have an MTHFR mutation and have had two children. I did have one miscarriage prior to my first child. I have a mutation on one point of the gene, and my husband has a mutation on another point. Our son has one copy of each (it's possible to have two copies of each depending on your parents' genes).

One copy (is that what you mean by one gene?) is not necessarily a scary thing. With MTHFR mutations there are varying degrees of severity (as I understand it and I'm not a health care provider of any type). It can interfere with the way folate is supposed to work in your body. It can also affect homocysteine levels, and I read somewhere that it may affect clotting (??? - not sure about this one). Miscarriage can be seen too.

I guess my point is don't panic. Hopefully you'll get lots of good info from the specialist. There are plenty of people running around with MTHFR mutations and they got here the same way you and your ancestors did.

There are some bad variations of MTHFR mutations (severity is on a continuum apparently) but I wouldn't jump to that.

Good luck and hang in there.

ETA: If you're seeing a genetic counselor (that's probably what I would do) I'd ask to have my husband tested too.

I found this condition by googling the letters. Because I'm using my phone and don't know how to put down the web address, I hope someone else will do that.

Great answers! Depends if hetero or homozygous too.