The MTHFR (methylenetetrahydrofolate reductase) blood test is ordered to detect mutations that commonly occur on this gene. If the mutation is present, then the individual will likely have an elevated level of homocysteine in their blood. It will usually be ordered if previous blood tests have indicated that there are above normal levels of homocysteine in the blood.
Individuals who have a family history of early onset cardiovascular disease may also be recommended for this test, as will individuals who have a history of inappropriate blood clots. A known family history of MTHFR mutations will also typically result in this test being ordered to ensure that it hasn’t been passed along from parent to child.
Up to 14% of the US population has two copies of the C677T MTHFR variant, but those with a family history of Mediterranean origin tend to be at the highest risk. This variant reduces the body’s ability to process folate and homocysteine, leading to a build-up in the blood.
There are typically no symptoms that develop which indicate that there is a MTHFR genetic mutation present. Most people tend to have this test after experiencing some of the signs or symptoms of cardiovascular disease.
What Do My Test Results Mean?
The MTHFR blood test results are typically reported as being either positive or negative. A negative test result generally means that there isn’t a gene mutation present, but won’t offer a solution for higher than normal homocysteine levels. High homocysteine levels can be caused by a B vitamin deficiency, metabolism disorder, or a rare mutation that the MTHFR blood test cannot detect.
A positive test, on the other hand, generally indicates that there is a mutation present. It is a good indication that the mutation is being behind the cause of high homocysteine levels. As a result, this gives the individual a higher risk than the general population of developing cardiovascular disease or thrombosis at some point during their lives.
No two people are alike should a positive MTHFR blood test confirm the reasons behind homocysteine elevations. Enzyme activity, folate levels, and an individual’s overall health status all contribute to the risks of cardiovascular disease development. The keyword here is “risk.” Just because the genetic mutation is present does not guarantee that cardiovascular disease or thrombosis will develop. It just means the chances are better than average that it will.
Here’s What You Need to Know
Only a small number of elevated homocysteine levels is due to genetic inheritance. The MTHFR blood test will detect the common types of this inheritance. It is believed that the homocysteine levels can damage blood vessel walls or promote the accumulate of plaque, which is known as atherosclerosis, but how this occurs is not completely known.
Even though there is a suspected link between MTHFR mutations, increased homcysteine, and cardiovascular disease risk, but many people who test positive on this blood test will never develop heart disease or even thrombosis. The risk assessment levels are still being created from test results and long-term studies involving individuals who have a confirmed mutation, so an accurate depiction of risk is not generally known as of yet.
Certain types of genetic mutations will cause enzyme substitutions as a variant. This makes the actual MTHFR enzyme less active and results may vary based on the level of variance that has occurred with an individualized mutation. For specific results in this area, a genetic specialist may be required to be on a person’s treatment team.
There have been some clinical studies that have pointed to an increased risk of neural tube birth defects, certain types of cancer, and pre-eclampsia from the genetic mutations on the MTHFR gene. This particular blood test cannot be used as a screening tool to be able to detect these conditions. Because pre-eclampsia is a toxemia of a pregnancy and creates high blood pressure, fluid retention, and protein in the urine that can damage the kidneys, the condition must be treated to prevent convulsions that may affect mother and child.
An adequate amount of folate intake can help to cancel out the higher than normal levels of homocysteine that can lead to higher risks of premature cardiovascular disease. If the test results from the MTHFR blood test are positive, then speak with your medical provider about what the benefits of an increased folate intake may be for you. Most people who test positive will not develop cardiovascular disease, but it is still important to take this information and apply to lifestyle choices.