MTHFR - Anyone Heard of It or Know Someone with It?

i was diagnosed with this as well when we went thru infertility treatment. i've had 5 miscarriages (before knowing). while undergoing infertility treatment, i was given high doses of folic acid in addition to a daily blood thinner (first it was heparin shots then lovenox shots) to prevent blood clotting and death of the babies (twins). i delivered two healthy girls, perhaps as a result of the extra treatment. most folks that have the disorder don't know it...it took my specialist to find it. oh, also took baby aspirin too. i'd make sure she hooks up w/a specialist to ensure she and (future) baby can get what they need.

I have a friend who’s sister has one of the forms of it. She had a baby that was still born last August because she developed a blood clot in her placenta. The good news is that she got genetic counseling and is trying again. She was instructed to take extra folic acid and a baby aspirin and then when she gets pregnant she will begin some shots (not sure what they are.) Any way there is hope. There is also a forum for women to help them cope with this http://mthfr.150m.com/

I hope this helps

Hi M.,

Just Googled it and this is what I found...

Methylenetetrahydrofolate reductase (MTHFR) is a rare genetic defect that can lead to complications in pregnancy. Many people do not know that they have this defective gene until after they have had several unsuccessful pregnancies. Others may carry one pregnancy to term and not discover until afterwards that they carry the defect.

What is MTHFR?
Methylenetetrahydrofolate reductase (MTHFR) is the name of a gene that produces an enzyme, also called methylenetetrahydrofolate reductase. If a person carries the genetic mutation that inhibits production of this enzyme, it can result in hyperhomocytenemia, which is an elevated level of an enzyme called homocysteine found in blood plasma.

When the body is deficient in methylenetetrahydrofolate reductase, its ability to absorb folate (also known as vitamin B9), such as folic acid, is inhibited. Folic acid and B9 are both essential to the development and health of the fetus.

MTHFR and Pregnancy
Because of a mother with MTHFR’s inability to efficiently metabolize folic acid and vitamin B9, the disorder has been linked to a variety of pregnancy complications such as chromosomal abnormalities, such as Down syndrome, and congenital malformations.

Elevated levels of homocysteine have been associated with placental disease, preeclampsia and recurrent pregnancy loss. 21% of women with high levels of homocysteine experience recurrent pregnancy loss.

Symptoms
Because MTHFR is a blood-based disease with many varieties, symptoms vary depending on the exact mutation of the disease. They can include:

blood clots
depression
anxiety

Detection
Blood testing is the most accurate way to screen for MTHFR. This is especially true if women have a history of complicated pregnancies, including recurrent pregnancy loss and/or stillbirths, or if they have given birth to a child with neural tube defects, such as spina bifida.

Treatment
Taking folic acid can help women with certain mutations of the disease. Folic acid can be found in eggs, dark leafy vegetables, such as spinach and broccoli, oranges and orange juice and legumes, such as peas and dried beans. Vitamin supplements also contain folic acid.

For more information on MTHFR, visit the following link: http://www.pregnancy-info.net/QA/answers-MTHFR_/

I know my response is late, (just got back from vacation) but I wanted to let you know that I have MTHFR (found out after suffering a blood clot the needed several surgeries at the age of 24) and had no trouble getting pregnant, but I went to a "high risk" obgyn because of the higher risk of having children with genetic disorders. I also went to a hematologist once a month while pregnant and I went through a lot of blood work and a few ultra sounds to keep a constant eye on the babies progress. I'm happy to report that I have a 2.5 year old and a 1.5 year old that are both perfectly healthy and normal. In fact they were both over 9 pounds when born! Anyway, just wanted to share with you my happy ending story since the other responses probably didn't do much to ease your mind. Tell your sister not to worry too much and follow doctors recommendation, good luck to her!

If you "Google" the initials MTHFR there is a ton of information. Good luck!