Monday, June 12, 2006

I finally have an answer for these losses...

Metylene-Tetra-Hydro-Folate-Reductase - or, MTHFR.

Dr. D called me this morning - which I was not expecting at all - and told me everything was normal, except for a MTHFR mutation (for which I have 2 variant genes).

As it stands right now, he is faxing my labs to my GP (Dr. McG) so he can order more bloodwork. Once that all comes in and Dr. D gets a copy, he is going to refer me out to a high risk OB/GYN group at St. Barnabas Medical Center and do a consult with them to see what protocol I will be under. He said we are probably looking at high doses of Folic Acid - anything else, he will consult on with the High Risk OB/GYN on.

So, I have an answer...and one that I was not expecting to get.

** Updated September 29, 2006 to add: Here are my current Homocysteine levels, before starting Folgard 1x daily on August 30, 2006 - to be rechecked in November 2006):

  • from May 9, 2006 (in the Recurrent Loss Panel, which shows the beginning of elevated levels): 10.8
  • from August 15, 2006 (during office visit for stomach issues to my GP): 15.3
  • average range limits: 3.3-10.4

I have so much research to do on this now, but from what I have found so far...

From Ask Dr. Stephan Moll (

MTHFR stands for Metylene-Tetra-Hydro-Folate-Reductase. Some individuals with the homozygous MTHFR mutation have elevated homocysteine levels. Elevated homocysteine levels are a risk factor for blood clots. The individual with the MTHFR mutation who have normal homocysteine levels are not at increased risk for clots. Thus, the MTHFR mutation by itself is not a clotting disorder.

MTHFR is an enzyme, which we all have in the cells of our body. It is needed to metabolize and get rid of homocysteine. High homocysteine levels are a risk factor for blood clots in the veins (DVT, PE) or arteries (heart attack, stroke, arteriosclerosis). Some people have a variant of this enzyme, which is called "thermolabile MTHFR" or C677T/MTHFR. It is due to a single mutation of the MTHFR gene. This variant does not metabolize homocysteine as well as the normal MTHFR enzyme, and blood homocysteine levels in individuals with this variant enzyme may therefore be slightly higher than in individuals with the normal enzyme.

The MTHFR mutation is extremely common:

* 44 of the population have the normal enzyme
* 44 % are heterozygous for the mutation (i.e. have 1 variant gene). These individuals have some normal enzyme and some of the thermolabile variant of the enzyme.
* 12 % are homozygous for the mutation (i.e. have 2 variant genes). All of these individuals' enzyme is the thermolabile variant.

Presence of the homozygous thermolabile MTHFR mutation is only one of various reasons why homocysteine levels can be elevated. Other reasons are vitamin B and folate deficiency and renal failure. Often we do not know why levels are elevated. Some studies reported that the homozygous thermolabile MTHFR mutation is associated with arterial clots. However, an overview of all studies concluded that this is not so. Studies on the association of the homozygous MTHFR mutation and venous blood clots (DVT, PE) have been inconsistent: some studies found a slight association, others none at all.

A normal homocysteine level is often defined as one being less than 13.0 micromol/L. The higher the level, the higher the risk for clots. Levels can be lowered by taking a multiple vitamin with a high content of folic acid (for example 400 mcg = 0.4 mg), vitamin B6 (= pyridoxine; for example 25 mg) and B12 (= cobalamin; for example 1 mg). Often folate treatment alone (dose: 0.4-5 mg per day) lowers homocysteine levels sufficiently. Alternatively, one can take a prescription multiple vitamin daily: Approximately 2 months after starting vitamins a homocysteine level should be checked again to make sure it has decreased into the normal range.

So much to read now... But, I have an answer... Finally.


mossyclog said...

*hug* I'm so glad you finally have a reason why. I hope the next steps in the process fall in line for you and your DH. *hug*

Joy said...

Glad you have an answer and can meet w/ an expert on seeing what needs to be done medically. Not what you expected to hear but results that you have been praying to get!

Dentyte said...

I have been diagnosed w/ both recessive genes from my parents. I have elevated homocysteine levels also. I started w/ migraines and over the years I have had 2 strokes also. Luckily, I had only small side effects. The treatment I was put on to stop my migraines and strokes was a vitamin B supplement (folbic) and Aggrenox (a minor blood thinner). It has changed my life. I have had no problems since starting these meds. Good luck w/ your infertility issue also. It took my wife and I 8 years to get pregnant. I can't tell you how many specialists we went to over the years, but w finally found one that is fabulous! Dr. Beers was referred to us (works in Chicago and California). He has 5 catagories of infertility. We had #5 which is having all the problems that impede a pregnancy. You may want to contact him. They were the most thorough and we finally solved the problem of our miscarriages. If you want to know the contact info for the Dr, just let me know!

Tina said...


Thanks for the information you posted. I have run across Dr. Beers' name in several places - but, at this point, I want to see how well I am managed with the ob/gyn and the MFM clinic I am seeing now. Since I am still on the lower-end of the scale in terms of homocysteine levels and its being treated now, I might not need to do much more than that.

You can certainly post (or e-mail me) Dr. Beers' contact information in case I need it. Thanks!

Rachel said...

Hi, I was glad to find that you have Doctors that know what they are doing. I've had 4 miscarriages 3 had gone by before I was tested for MTHFR I have the double mutation c677t.
We got treatment with my 4th pregnancy I was injecting Heparin,taking 81mg of asprin,prometrium and Folgard which is high does folic acid and B vitamins. My pregnancy only lasted a week or two longer then the others. I planned to lose pre pregnancy weight before we tried again and taking folgard 3 months prior to ttc. But Surprise I am pregnant just took the test this weekend my Specialist is on vacation and I am stressing out on getting my meds started. I noticed on your blog that you were tested for your homocysteine level. My Doctor told me there was no need to test it since I was taking the folgard and heparin. Maybe I should stress this again can you recommend a way I should word it so that I am not at the losing end of an argument. Thank you so much for posting your story it is great inspiration and I know how much pain it cause to get you to where you are today. God bless you and your family. -Rachel in California