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MTHFR
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MTHFR

I lost a baby due to preterm labor at 22 weeks, two days after the loss I needed a D&C, some blood tests were taken, my IGM anticardiolipin was extremly high 128, then three months later it went down to 14, the IGG and IGA were normal both times.  I also tested positive for homozygosity MTHFR and PAI-1 gene.  My father had a heart attack at age 49, his father died of one at age 55.  I am 37 years old with no kown health problems.  Would it be risky for my health to become pregnant again with these gene mutations and the IGM antibodies?  AM I at risk for a heart attack or stroke if I get pregnant?  There were no blood clots found in the placenta, what does the high IGM antibodies indicate?
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Simonmi,

Sorry to read of your trouble.

First, in regards to the methylene tetrahydrofolate reductase (MTHFR):

MTHFR usually leads to a 30-40% increase in homocysteine levels.  You did not tell us that your homocysteine level is high, but I will assume it is for the sake of this discussion.

Patients with MTHFR TT genotype have a 16 percent higher odds of coronary heart disease compared with controls (odds ratio 1.16, 95 percent CI 1.05 to 1.28).  This risk factor is less important than diabetes, high cholesterol, high blood pressure, or smoking.

Homozygosity for the thermolabile variant of MTHFR (TT genotype) is a relatively common cause of mildly elevated plasma homocysteine levels in the general population, often occurring in association with low serum folate levels.  As an example, one study of 625 men found that 11.5 percent were homozygous for the TT genotype.

Whether or not to treat high homocysteine levels is controversial.  Most cardiologists think that patients with coronary artery disease should be treated, but in a young person such as yourself it is less clear.  Treatment is generally benign, though, and so might be started even without trial evidence.  Most doctors recommend treatment with folate, B6 and B12. Normalization of the homocysteine concentration has been reported within two weeks, but further lowering of homocysteine levels occurs by six weeks.

Now, in regards to the anti-cardiolipin antibodies, I suspect that these were initially high secondary to the inflammatory state brought on by the D&C and pregnancy.  The low levels at a later time suggest this possibility.  I would seek expert opinion from a hematologist or vascular medicine specialist to help clarify this point.

Lastly, in regards to the PAI-1 gene, the presence of homozygosity for this gene is associated with a slightly higher increase in clotting during the pregnancy.  An obstetrician would be more familiar with this than I.

From what you have told me, I do not see evidence for a high risk of stroke or heart attack during pregnancy, but you deserve a full evaluation.  Numerous details about your history need to be clarified before a recommendation about subsequent pregnancies can be rendered.

Hope that helps, and good luck.


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