Dr Binyamin Rothstein DO

MTHFR deficiency is a common cause of many metabolic changes, one of which is that of elevated homocysteine. Homocysteine is a by-product of methylation (reference this to our article on methylation) and is strongly associated with inflammation. It is unclear as to whether it is the direct cause or simply an indication of underlying dysfunction, nevertheless elevated homocysteine is associated with increased risk of heart disease and poor pregnancy outcomes.

An article published by the American Journal of Clinical Nutrition in April 2000 entitled Plasma total homocysteine, pregnancy complications, and adverse pregnancy outcomes: the Hordaland Homocysteine study. reported that pregnant women with elevated homocysteine had a 32% increased risk of preeclampsia, premature deliveries were increased by 38%, very low birth weight was increased by 101% and this was in addition to the well documented association with neural tube defects and club foot. This means that women with elevated homocysteine are at very high risk of serious and sometimes life threatening complications associated with elevated homocysteine.

These findings were confirmed in 2003 by an article published by Best Practice & Research Clinical Obstetrics & Gynaecology entitled Homocysteine and Pregnancy, and they concluded that “Apart from folate supplementation, which has been clearly shown to halve the risk of fetal neural tube defects, no other strategies have been identified in relation to homocysteine metabolism that will reliably reduce the frequency of these other common obstetric pathologies.”

As a means of comparison, to show how significant theses numbers are, taking medications to lower elevated cholesterol decreases your risk of heart attack by only 5% (whereas eating a healthy diet, exercise, taking the right vitamins, learning how to manage stress and getting adequate rest will decrease your likelihood of a heart attack by more than 85%). What that means to you is that elevated homocysteine is 6-20 times more dangerous than high cholesterol!

With the advent of genetic testing we have identified the major causative factor of elevated homocysteine levels and it is MTHFR deficiency genes 677 and 1298. Because of this increased knowledge we can now treat elevated homocysteine based on true science making the treatment more effective and more reliable.

As this is relatively new science it will take a few years for the research to come out but in the meantime women can do 3 things (beyond taking plain folate) to improve their outcomes and overall health in the face of a history of elevated homocysteine:

Get tested for the MTHFR deficiency gene
Begin taking the proper nutrients (methylcobalamin, methyltetrahydrofolate, pyridoxal 5 phosphate, zinc glycinate and trimethylglycine)
Monitor homocysteine levels to ascertain that the treatment is working.
Not all doctors are aware of this vital information, so don’t be shocked if your doctor seems confused or even resistant to this. Most important is to know that treated elevated homocysteine is safe for everyone and that includes pregnant women.