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» LymeNet Flash » Questions and Discussion » Medical Questions » elusive labs...

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Author Topic: elusive labs...
Melanie Reber
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I feel like I am hogging the board right now (what is up with LymeNet anyway and where is everyone? Normally my posts would have pushed down to page 2 or 3 by now) but this is a new topic, and I know this is the best place to gain some insight.

So, normally doing lab tests are always an anxious ordeal to me because I see it as going one of two ways- either something shows up rather terrifying OR nothing shows up which is equally as frustrating.

I just recieved my results from last week and three things were off.

-Glucose is elevated and now puts me right over the line into prediabetes. This might explain quite a few rather annoying symptoms such as frequent thirst, constant urination (which I associate with drinking all day long due to frequent thirst), dry mouth (which also relates to the above), vision issues, numbness and pain in extremities, edema, fatigue, itchy skin, and generalized restlessness.

-ALT is elevated, however AST is just fine. So, this shows that my liver is doing weird things.

-FIBRINOGEN ACTIVITY, CLAUSS is elavated which shows (from my uneducated research) that my blood clotting factor is somwhat wonky.

-There was also some warning about the METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR), DNA test that revealed I am 'POSITIVE FOR TWO COPIES OF THE C677T VARIANT'. Apparently this is a 10-15% rarity for the caucasion population, or some such nonsense that honelstly went right over my head.

So, the question of the day is... are these results pretty normal for those of us dealing with TBDs? I would love to hear any experiences with these results and what you did to fix them.

As always...Thanks in advance!!!

Posts: 7052 | From Colorado | Registered: Mar 2003  |  IP: Logged | Report this post to a Moderator
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Hey, Mel. The board has been really quiet for a few years now. So many moved over to Facebook groups.

You may be able to find info in the archives on the MTHFR. I think it's positive in about 45% of the population, but having both variants is not as common. Lucky you!!

I took heparin shots for awhile due to high fibrinogen. It's fine now, thank goodness. I think it can be high due to inflammation.

I have no clue on the liver stuff... are you taking abx already?

Hope this helps!!

Opinions, not medical advice!

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Melanie Reber
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Well, goodness Miss Toots, I guess you will be my dance partner for awhile. [Wink]

I am sorry to know that about the drop in activity here, there was a time... who's sounding old now?

Good to know about the heparin, if needed. And I will have to do yet more research on the MTWHFSS stuff, although I am feeling rather researched out about now.

No, last week I saw a very LL ND who ordered labs and started me on too many supplements to name, to try and knock back a few issues before seeing the practice's(?) MD, which will happen on the 15th.

So, I have 11 more days to dance!

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OK, I was just wondering if the abx were already doing a number on your liver.


Opinions, not medical advice!

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Melanie Reber
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Interestingly enough, come to find out, Quest ran this test on me by mistake. It was not ordered by my doc. So, I never would have known about this double gene mutation otherwise. May or may not explain a few things... perhaps this is why I have the fibro- whatever clotting issues and issues giving blood- I always clot up before the final tubes are filled. This go round was no different.

When I use to try to give blood back in the day, prior to TBD diagnoses... the people at the Blood Bank basically told me 'Thanks but no thanks' because it took SO damn long to fill the bag! The chair next to me would be occupied 3 or more times while I was still stuck in my chair grimacing and feeling rather faint.

Some info on the 2 copies of the mutated gene:

Question: I was recently told by my physician that I have two copies of the MTHFR C677T mutation (homozygous mutation). What does this mean for my health?

Answer: Humans contain two copies of each gene, one from the father and one from the mother, which are referred to as the alleles of a gene. If a mutation occurs in just one copy of the gene then that individual is considered heterozygous. However, if both copies of a gene are mutated then that individual is considered homozygous.

Two copies of the MTHFR C677T mutation can result in the following symptoms:

-Decreased enzyme activity levels.
-Elevated homocysteine levels, especially with concurrent deficiency of vitamins B12, B6 (pyridoxine), or folic acid.
-3-fold increased risk for premature cardiovascular disease.
-Increased risk for blood clots.

Homozygosity for the C677T mutation, in either the mother or the unborn baby has been associated with a 2-fold increased risk for neural tube defects (spina bifida and anencephaly) in some, but not all populations.

Obstetrics complications such as severe pre-eclampsia, placental abruption, severe fetal growth problems and fetal demise.

Current data suggests between 10-15% of whites, 25% of Hispanics and 2% of blacks have the more severe homozygous C677T mutation. The good news is most people with this homozygous mutation do well!

However, even one allele mutation, which occurs in 50% of the population makes it more likely that you will have migraine headaches or other low serotonin medical problems like:

-irritable bowel

Try taking a B-complex vitamin to help with migraine headaches and give you better energy.

July 11, 2016 at 10:51am

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Melanie Reber
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More light reading on the MTHFR gene:

December 22, 2020

If you’re wondering “what is MTHFR?” you’re not alone. Here’s a primer on what you need to know about this common genetic mutation.

Your body is made up of trillions of cells, each containing your genes—the set of instructions for making you who you are. Genes are segments of DNA, and each gene provides a particular set of instructions, usually coding for a specific protein or a particular function.

Humans have an estimated 20,000 genes, and one of those is the MTHFR gene, a gene that helps your body process folate. Unfortunately, 30-60 percent of all people carry an MTHFR gene variant which may lead to low levels of folate and b vitamins and high levels of homocysteine in the blood. Over time, these downstream effects of mutations in the MTHFR gene can put people at higher risk for many common health problems such as preventable heart disease, colon cancer, stroke, Alzheimer’s disease, and more.

So how do you know if you have a MTHFR variant and what can you do about it? This article will outline the most common symptoms, testing available, and the best natural treatments to help you manage symptoms for the long term.
What exactly is an MTHFR mutation?

MTHFR is a gene that provides the body with instructions for making a certain enzyme called methylenetetrahydrofolate reductase (MTHFR). When you eat foods that contain folic acid, MTHFR converts it into methyl-folate (folate’s active form).

Methyl-folate is critical to methylation, which helps to optimize a huge number of processes in your body including the production of DNA, metabolism of hormones, and proper detoxification.

There can be one abnormal variant (heterozygous) or two (homozygous), which are passed down from parent to child. The more variations you have, the more issues your body will have with methylating.

An MTHFR gene mutation may change the way you metabolize and convert nutrients from your diet into active vitamins, minerals, and proteins your body can use. This genetic mutation may also affect hormone and neurotransmitter levels, brain function, digestion, cholesterol levels, and more.

What is methylation and why is it important?

Our bodies are incredible, complex machines. Methylation is the process that allows some internal switches (i.e. bodily receptors) to turn on and off to function efficiently. SAMe—also known as S-adenosyl-L-methionine—is known as the universal methyl molecule that donates a methyl (CH3) group to enable our cardiovascular, detoxification, and neurological systems to perform. If methyl-folate is not present, this methylation process simply halts, resulting in a myriad of symptoms.

Symptoms of an MTHFR gene mutation

MTHFR mutations affect everyone differently, and symptoms can vary from long-term health issues to hardly noticeable changes in overall health. Research has shown an association between MTHFR mutations and several health problems including:

ADHD (Attention Deficit Hyperactivity Disorder)
Autoimmune disease and thyroid issues
Cardiovascular disease
Chronic fatigue
Colon Cancer
Digestive issues, including IBS (Irritable Bowel Syndrome)
Hormonal issues, including PCOS (Polycystic Ovary Syndrome)

Research has even found an association with an MTHFR mutation and depression, anxiety, and other mental health disorders. MTHFR produces an essential enzyme that converts folate into a form that plays a role in mood-regulating neurotransmitter production.

Natural treatments for MTHFR mutation symptoms

Having an MTHFR mutation doesn’t automatically mean you will experience the symptoms or health issues outlined above. MTHFR mutation symptoms also depend on which variant of the mutation you have and whether the variations affect both of your MTHFR genes.

Having the MTHFR mutation is an opportunity to make changes to your diet and lifestyle to maximize your methylation, manage symptoms, and optimize your overall health.

1. Consume more folate and vitamin B12.

Consuming more folate in your diet may aid with methylation. Some of the best whole-food sources of folate include dark leafy greens, avocado, and lentils.

Those with an MTHFR mutation are also at higher risk of being low in Vitamin B12. Vitamin B12 can be supplemented easily without a prescription, whether as isolated B12 or present in multivitamins and B complex vitamins. Always check with your provider what is best for you. Foods high in vitamin B12 include pastured eggs, nuts, beans, and nutritional yeast. Additional foods that support healthy methylation include asparagus, avocado, broccoli, and legumes.

2. Support detoxification.

Because reduced methylation contributes to poor detoxification, it’s important to support your body’s natural elimination pathways.
Tips to improve detoxification include:

Eat a high fiber diet (30-50 grams per day).
Eat anti-inflammatory foods such as vegetables, well-sourced protein, healthy fats, and fruits. Remove all refined sugars from your diet.
Move and sweat regularly, at least 4-5x per week, including regular sauna treatments and Epsom salt baths.
Keep your bowels moving and stay well hydrated so that you can take advantage of your primary detox mechanisms, urination, and defecation.
Take advantage of specific supplements, like antioxidants, fiber, and phytonutrients that support detoxification.
Avoid exposure to toxins like chemical house cleaners. They can inhibit methylation and act as endocrine disruptors in the body among other things.

3. Minimize alcohol intake.

Alcohol intake can make symptoms worse by inhibiting DNA methylation and increasing the demands of detoxification on the liver. Limiting your consumption of alcohol can support less interference in already stunted methylation processes in those with MTHFR genetic mutations. If you do decide to drink alcohol, it should be consumed in moderation—up to one drink per day for women and two drinks per day for men—and preferably in the forms of tequila, vodka, and mezcal, rather than wine and beer. Read about some of our best biohacks to help you cut back on your alcohol intake.

4. Manage your stress with lifestyle changes.

Those with MTHFR genetic variations are more likely to have an imbalance of neurotransmitter levels, which can affect mood and irritability, especially when stressed. In fact, high levels of stress can exacerbate MTHFR mutation symptoms. Tips for decreasing overall stress include starting a regular meditation practice, journaling, spending time in nature, and volunteering but ultimately, uncovering the specific activities that help you to unwind, stay grounded, and decompress are the most important tools to help manage personal stress levels on a daily basis.

5. Check your supplements.

People with MTHFR mutations might have more difficulty converting folic acid into its usable form, and this may cause symptoms to worsen. Check if your current supplements contain folic acid and if they do, stop taking them or switch to another brand. It’s important to opt for a supplement that contains the most bioavailable form of folate—methyl-folate—which can help your body absorb the vitamin more efficiently. Additional supplements that help support this genetic variant include magnesium, vitamin D, and vitamin B6.

6. Heal any underlying digestive issues.

Healing and supporting your gut is critical to improving methylation and bringing your body back to optimal overall health. To improve gut health and digestion, these are some of the best changes you can make to your diet:

Promote a healthy microbiome by eating fermented foods like kimchi, kefir, miso, and kombucha, which help to maintain high levels of healthy bacteria in our gut and aid in digestion.
Reduce intake of inflammatory foods such as sugar, gluten, refined grains, trans fats, and conventional dairy.
Eat more healthy fats. N-butyrate, an anti-inflammatory short-chain fatty acid, helps feed the cells that line the gut and help them heal. You can get n-butyrate in the form of ghee or coconut oil.
Consume other gut-friendly foods, including bone broth, organic vegetables and fruit rich in prebiotic fiber, and flaxseeds and chia seeds.

Testing for the MTHFR gene mutation

A genetic test can determine if you have an MTHFR gene mutation or other genetic SNP (single nucleotide polymorphism) variations that may be affecting you. This can be done with any of our Parsley Health physicians and often is covered by insurance. Other tests that can help confirm an MTHFR mutation include homocysteine levels, hormone level testing, and microbiome labs—all of which can also be ordered and interpreted by your Parsley Health clinician.

If you suspect you have an MTHFR mutation, work with a provider that will order the correct tests to help get to the root cause of your symptoms and rule out any other possible issues.

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