Why Does Heart Disease Run in My Family? Why You Should Care About Homocysteine, Folic Acid and the MTHFR Gene Mutation

Keep a Healthy Heart
Heart disease affects millions of Americans. New special testing helps to identify heart disease risk early…even for those with healthy Total Cholesterol, HDL, and LDL.

Heart disease is tricky business.

This is because cardiovascular disease can occur underneath the surface without you even knowing.

It is increasingly clear – the standard lab tests ordered by most doctors are not sufficient to show a full picture of heart disease risk.

In fact, up to 50% of heart attack deaths are in people with normal cholesterol values and who otherwise live healthy lives!

Millions of Americans, athletic and non-athletic, overweight and skinny, may be told that they are healthy and at low risk of heart disease, when in fact they may be at high risk.

New advances in clinical testing can allow health professionals to identify heart disease risk faster and earlier. As a result, we can recommend appropriate preventative actions, before more aggressive medical treatment is needed.

Science is totally rewriting the chapter on heart disease. It is no longer just about “good’ and “bad” cholesterol – the picture is much wider, the “Truth” is much more grey.

A few weeks back, I introduced you to high sensitivity C-Reactive Protein (hs-CRP), which is one of the best markers of hidden heart disease, inflammation and infection. I recommend taking a moment to review it after reading this article.

My primary aim for this article series is to introduce you to a mutation in a gene known as methylenetetrahydrofolate reductase (MTHFR). MTHFR is an enzyme that helps our bodies “activate” folic acid and use it in our bodies. Although the name can be an intimidating mouthful, pronouncing the letters out loud is all that you need to do.

Slight mutations in the gene coding for MTHFR can run in families and lead to a poor ability to use folic acid. 10% of the population fully carry the genetic mutations, while 45% of the population may just carry one of the two main mutations – causing mild alterations in their ability to use folic acid.

MTHFR gene mutations are relatively common, and if heart disease runs in your family, it may be worth checking to see if you are a carrier.

How Common are Gene Mutations?

Variations in genes are common and more of the norm than they are the exception. For instance, some of us are better at handling caffeine better than others,  have muscles better equipped for endurance rather than strength, or vice versa.

Researchers are now finding the direct links between genetics and lifestyle – and we are just scratching the surface of the potential of the field known as Nutrigenomics –  the science of how nutrition interacts with our genes.

Epigenetics has also emerged into the spotlight under the umbrella of Nutrigenomics. Epigenetics is the science of how the environment interacts with our genes and causes changes in our genes totally independent of the genes we inherited from our parents.

It is now scientifically clear that what we eat, how we live, and how much toxicity we are exposed to has a direct effect on our genes and ultimately our health. Our lifestyle & environment has potential to literally change our genes to the point where those changes to our genes can be passed on to our offspring.

How Can I Know if I am a Carrier?

Having a mutation in your version of MTHFR is one of those specific links that you can be born with that can raise your risk for a number of disease.

The simplest way to know is to test for it. Ask your doctor or functional medicine expert that you are interested in being tested for this marker.

There are other reasons why your functional medicine doctor may suspect that you are a carrier:

  • Macrocytic anemia related to folic acid and vitamin B12 deficiency despite folic acid and vitamin b12 levels appearing normal in the blood.
  • High L-Homocysteine levels (>11 umol/L) in the blood. Homocysteine, like hs-CRP, is another marker of hidden inflammation that  is associated with high cardiovascular risk.


Rising levels of homocysteine are a marker of cardiovascular disease risk and ischemic heart disease. Roughly 5% of the population has high homocysteine. High homocysteine may increase their risk for:

Increasingly, doctors are adding homocysteine to their wellness screening as it helps to identify hidden heart disease. I recommend  that you ask your doctor to add this marker along with hs-CRP to your annual or six-month bloodwork.

What Causes Homocysteine Levels to Rise?

Simply put, a folic acid deficiency along with other B-vitamin deficiencies can lead to high homocysteine levels. A deficiency of folic acid is not uncommon as folic acid is most plentiful in dark, leafy green vegetables, foods that are largely absent in most American diets.

Folic acid does not work in isolation and other B vitamins such as Vitamin B6 and Vitamin B12 are important for homocysteine metabolism as well. B6 and B12 are also commonly deficient, especially in the elderly and those with a history of stomach problems and indigestion.

Folic acid, along with other vitamins, is involved in keeping levels of homocysteine healthy and low. But as alluded to above, 10% of the population can be at a disadvantage when it comes to using their folic acid appropriately. This means you can have healthy folic acid levels, but not be able to use it for all of its essential functions in the body.

If you don’t test, you don’t know.

Functional medicine practitioners are equipped to order the correct tests and more importantly, follow it up with the right analysis and recommendations.

MTHFR Testing

As mentioned previously, carriers of one of two mutations in the gene encoding methylenetetrohydrofolate reductase (MTHFR) do not use their folic acid very well.

As a result, carriers of the mutations to MTHFR are subject to higher risk for a number of health conditions, especially cardiovascular disease.

If you are analytical and like to know the specifics. The exact mutations are labeled as C677T and A1298C and they are named based on the specific type & location of the point mutation:

C677T: Mutation from cytosine to adenine at position 677 in the gene

A1298C: Mutation from adenine to cytosine at position 1298 in the gene

The ramifications of these mutations are important for your health.

My Personal Story

Because of my known risk from past genetic testing, I recently decided to invest in full holistic lipid testing on myself and elected to screen for other markers for hidden heart disease, most notably hs-CRP and L-homocysteine.

I used SpectraCell lab’s LPP Plus profile which costs $80-160 depending on your insurance plan. Your doctor does not have to go through Spectracell specifically and may prefer to work with a different lab company.

The science of lipid testing is being rewritten as to the roles of Total Cholesterol, HDL (“good” cholesterol), and LDL (“bad” cholesterol) in heart disease. Lipid “particle size” and “particle number” are now widely recognized as being better indicators of heart disease risk. While traditional markers of heart disease can be useful, lipid particle size and particle number tell us more specifically what is going on “under the hood” of your body when it comes to heart disease risk.

Again, you can have normal Total Cholesterol, HDL, and LDL, but have abnormal particle size and particle number, and still be at high risk for heart disease.

To jump to the point, I found I had high hs-CRP and homocysteine levels, and that my total HDL numbers were mildly low, and the sizes of my HDLs were not optimal.

Because of my example of being a healthy person with hidden health risks. I recommend advanced lipid screening for anyone with a history of heart disease risk in their family. Others may simply be curious to see if they are at high risk and wish to undergo preventive screening.

<<LPP Results Page 1 (Opens in New Window)>>

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Why Should You Care About My LPP Plus Test Results?

When I tell my patients and family members that I have markers for hidden heart disease, they are taken by surprise. I tell them that this is the power of functional medicine and why I love my career so much. I am able to identify serious health problems much earlier than we ever thought possible.

By identifying risk in individuals who would otherwise be deemed “healthy”, this work can truly save lives. It’s extremely powerful to think about, and it cannot be overstated.

Those close to me know how much I look to take care of my body and health. If I have hidden heart disease risk, it’s very possible that a spouse, friend, or family member could carry some of the same genetic markers too.

Again, functional medicine allows you to check “under the hood” for health problems before they occur. In doing so, you and your doctor can create a Personalized Action Plan (PAP) in ways that have only been possible in the last five to ten years.

For lifestyle medicine to be effective in the 21st century, I believe that health professionals must personalize therapies that are best for you and your specific lipid profile. When it comes to personalized care, science is finding that many of the strategies are rooted in clinical nutrition approaches.

How Did This Happen to Me?

Answer: Genetics + Lifestyle

Genetics is an intimidating word. Basically it’s all of the traits that are passed down to you from your parents – but the story is also being rewritten. While I do not carry MTHFR snps, I do carry snps that effect my B12 status. B12 works with folate to help lower homocysteine.

Do Genes Determine Destiny or Just Risk?

Having a genetic risk for heart disease does not mean that I am destined for heart disease. It just means that I am at higher risk. For example, a loaded weapon is risky, but it still requires someone to pull the trigger for it to be dangerous.

In the case of heart disease, risk is mainly dependent on diet and lifestyle. We are now finding that individuals may carry unique variations in genes that may increase or decrease your need for certain nutrients – making you more or less susceptible to certain outcomes.

This may mean that you handle a drug differently than another person. It may mean that you need more folic acid than someone else. It may mean that you’re more sensitive to carbohydrates than someone else. The science is still young, but its initial findings are profound.

Those of us carrying the gene mutations have a higher risk of cardiovascular disease (especially stroke), infertility, neurological problems, depression and more. Carriers of certain snps in genes may not tolerate drugs such as Methotrexate very well, and because of how we handle nutrients, we be at risk for toxic side effects and require closer monitoring.

For me, as long as I have high homocysteine – it suggests that I am subject to hidden inflammation in my blood vessel walls – a leading cause of death in the United States.

I now take forms of folate and B12 that are right for me (methylated versions of vitamins are not always right for you!), a fish oil, and a formulation of botanical extracts including: green tea extract , resveratrol, pycnogenol, and grape seed extract. These extracts are known for their antioxidant and anti-inflammatory properties – especially when it comes to heart disease.

What’s right for me, however, may not be right for you. Your functional medicine doctor will develop a customized plan that fits you based on your specific test results. He or she will guide you on any necessary dietary changes, and if supplements are recommended, make sure you are taking the appropriate form and dosage.

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