"...I was wondering if there are any studies showing a connection between HELLP and MTHFR mutations..."

Q: I was wondering if any other mothers who have had HELLP Syndrome have shown to have a MTHFR mutation? I developed HELLP at 23 weeks with no warning. Suddenly my LFT's were elevated, platelets were as low as 15 and I had mild right upper quadrant pain with neck and shoulder tingling. After an emergency c-section, 11 units of platelets and the loss of our son Tyler, I am recovering well. However, this lab result (MTHFR) shows a homozygous mutation. The doctor now says for the next pregnancy I'll need aspirin and heparin therapy. I was wondering if there are any studies showing a connection between HELLP and MTHFR mutations. Are there any mothers that have contacted the society with a similar result?

A: MTHFR mutation - especially when homozygous - is a clear risk for cardiovascular disease. This includes preeclampsia. It is likely that it was a contributor to your case - but not the entire problem.

The problems with MTHFR can be overcome with supplementation with folic acid (a vitamin in your prenatal). If you were not getting enough, your homocysteine level should have been elevated.

For a future pregnancy you should probably take a large supplement of folate - eg,. 4-5 mg per day. This is a dosage that is used to reduce the risk of spina bifida as well - very safe. Some would recommend a vitamin B12 supplement as well.

With vitamin supplementation, your homocysteine levels should be normal and this part of your risk eliminated. Heparin would probably not add additional benefit. Aspirin might - and it is easy.

Thomas Easterling, M.D.
University of Washington

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