Detecting MTHFR Mutations

Disclaimer: As with all posts on this blog, remember that I am not a doctor or licensed physician, nutritionist or other healthcare professional. Verify anything I say with reputable sources and consult with a physician before starting, changing or stopping any medical treatment for any condition.

Most people I talk to are not that interested in MTHFR until they find out that they (or a close relative) have it. Until a few years ago there was no medically accepted test for the genetic defect, and it was only a few years before that that they were first identified. I refer to changes in the MTHFR gene as "defects", "mutations", "polymorphisms", "disorders", etc. This is not to imply that all the effects are bad. There is an accepted normal gene sequence for MTHFR. Anything different with any negative effects are considered disorders, even if they also have positive effects.

MTHFR is important for DNA and using genes properly. Because MTHFR affects your genes, problems with MTHFR can cause almost any symptom. There are some very common symptoms, though. My physician and I generally consider any person or immediate family with three of these should be tested, and an extended family with four or more should be tested. The most common major symptoms are:

• Depression/Anxiety* (including bipolar depression)
• Irritable Bowel Syndrome (IBS) or Functional Gastrointestinal Disorder(FGID)
• Migraines
• Fibromyalgia/Chronic Pain
  
• Recurrent Miscarriage
• Dementia/Alzheimer's Disease*

There are medications that treat MTHFR that are FDA approved for the conditions above with an asterisk, and the others have been correlated in various studies. Minor symptoms include

• difficulty concentrating
• impaired social ability
• propensity for addiction/alcoholism
• heart disease
• high blood pressure

There is a blood test for MTHFR mutations that can be ordered by any doctor (although many do not know they can order it). There is also a test available from Sciona that tests for MTHFR, MTR, MTRR and a host of other disorders. Both of these tests only check for the two most common MTHFR mutations, so it is possible to be affected even if the test comes back normal. As with all medical tests, there is a chance that the test results in a false positive or false negative. The chances of the test coming back as normal for a person with MTHFR mutations is incredibly small, but it is still a possibility.

To my knowledge, both of these tests require a doctor's prescription. The Sciona test may be not require a prescription, but may be given at a discounted rate if recommended by a doctor. The Sciona test costs between $200-300 in the U.S.

The other option for those who think they may have a MTHFR problem is to start treatment and see if they get better. All but one of the MTHFR treatments I have tried are available over-the-counter. None of them are really any more dangerous than Ibuprofen (Motrin). This makes it possible for individuals to attempt treating themselves, although I highly recommend getting professional advice from someone who has experience in this area in case there are problems.

One last caveat: these symptoms can be caused by other genetic disorders in the methylation pathway, certain environmental toxins, and unrelated disorders. Treatment for these other disorders may be different from treating MTHFR mutations, though the treatments may have some overlap. Just because a person has these symptoms doesn't guarantee they have MTHFR problems, not does having MTHFR problems guarantee they'll have these symptoms. In my experience, though, the correlation has been uncanny.