Solving the Medically Unsolvable: Gene, Nutrient, and Diet Interactions with Dysautonomia

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HACL thiamine dysautonomia

Years of Pain, Fatigue, and Weird Symptoms

I have had chronic fatigue syndrome, excessive Non-REM (NREM) dreaming, mood issues and muscle pain 24/7 for as long as I can remember. I have been to more than 100 health practitioners of various flavors, from the conventional doctors and specialists, to herbalists, energy medicine doctors, hypnotists and acupuncturists as well as taking pretty much every test available. Most tests were frustratingly normal. I had deficiencies in iron and B12 at various times but that came right after being diagnosed with Celiac Disease and starting a strictly gluten free diet.

Still, the fatigue and 24/7 pain persisted, and with the start of menopause, new symptoms emerged. I experienced periods of vertigo, brain fog, unexplained cold sensations in my chest, and after taking bioidentical progesterone for a few days I experienced daily dizziness and eventually got diagnosed with postural hypotension when the cardiologist measured a drop in systolic blood pressure of more than 30 upon standing. This daily dizziness continued for more than three years.

I tried all of the usual dietary interventions as well as the low oxalate diet, the anti-candida diet, the Failsafe diet and other elimination diets. All failed to make a dent in symptoms. The only time I noticed an improvement was when, after several bouts of gastroenteritis, I was forced to subsist on dry gluten free bread, a whey protein based meal substitute drink and skinless chicken. People commented that my skin looked good and I had improved energy, however, over time I returned to my normal diet and the benefits gradually disappeared.

Resolving the Dizziness, Brain Fog, Dysautonomia / POTS with B Vitamins and Diet

For more than three years, I have had daily dizziness pretty much all day as a symptom of dysautonomia/postural hypotension. An OAT test showed low thiamine and I had high hopes that thiamine would be the magic ticket that would get me out of dizzy brain fog hell. Thiamine and a reduced sugar diet did help a lot with energy, mood and general well-being, but unfortunately the reductions in postural hypotension were minor.

I experimented with supplements and lifestyle changes. I increased my meditation time, and did gratitude journaling and worked on taking in the good and rewiring my brain. This helped me better manage the stress of chronic illness and reduced some of my symptoms of depression and agitation.

I also found improvements in taking thiamine and riboflavin (B2) 3-4x a day along with high doses of the other B vitamins once a day. But, again the daily dizziness and brain fog persisted.

My big breakthrough came when I discovered that I had been taking the wrong form of niacin. I had been taking niacin and inositol hexanicotinate for the last three years, but it wasn’t until I returned to taking niacinamide that the symptoms dysautonomia dialed down. I started with a 50mg dose and by the end of the day I noticed that I had been less dizzy. I gradually increased the dose to the full 500mg and the symptoms kept reducing. I also got my brain back! No longer was I feeling constantly brain fogged, sluggish and mentally confused. Now that the niacinamide had my blood circulating properly and fueled my biochemistry things started working. My thyroid numbers had always been on the cusp of hyperthyroidism, yet I had a sluggish metabolism. Within a week, I noticed that with no other dietary changes my post-menopausal muffin top had reduced, my energy increased, and my skin was looking better.

The Missing Pieces: HACL1 and Phytanic Acid

I had high hopes that I would be able to completely eliminate the symptoms of dysautonomia, however, there is still some lingering dizziness. Over the last few weeks, I have been experimenting and have noticed two interesting associations.

The first, is sugar intake. Additional fruit or anything high in sugar increases my symptoms of postural hypotension. This could be linked to thiamine or niacin.

The second, is a reaction to foods high in phytanic acid. I first learned about the HACL1 gene from the Hormones Matter blog and I quickly realized that this made sense of the fact that I reacted to both A1 and A2 cheeses and yogurts as well as butter, but am fine on whey protein. I also react to oily fish and red meats but I am fine with pork and chicken. I live in New Zealand where all of our lamb and beef are grass fed, so all of our dairy products and red meat are higher in phytanic acid than the same products from grain fed animals.

In the past, I had noticed that any of these foods that are high in phytanic acid trigger feelings of rage and anger. There seems to be a threshold, so I can do an elimination diet and reintroduce butter and be fine, but over time, I believe that they phytanic acid accumulates and then the symptoms appear. Once I reach the threshold, I “hulk out” within minutes of eating beef, lamb, fat containing dairy products and oily fish. I have also had similar reactions in the past when I ate sugar or drank alcohol. I had in the past noticed that my dysautonomia was worse with all of these things. It would appear that thiamine is required to process all of these things, either directly in the case of sugar and alcohol or through the HACL1 gene for the other foods. This suggests that my body struggles to maintain thiamine levels and get the thiamine to where it is needed.

 

HACL1 rs17485390 (C) TT
HACL1 rs6784844 (T) CT
HACL1 rs6797119 (T) CT
HACL1 rs7648958 (A) AG

Feeling confident after increasing my niacinamide to 1,000mg spaced throughout the day, I reintroduced foods high in phytanic acid and the dizziness increased fairly quickly. I am now sticking to a low phytanic acid with only occasional red meat, fish or butter. (Yogurt and cheese are gone for good and maybe the other foods will need to be completely eliminated too.)

I found an old test that showed that my urinary l-lysine was low. After more research, I discovered that lysine helps maintain tryptophan activity and reduces the draw on niacin in the body. My tryptophan levels were normal on both urinary and blood tests but perhaps a lysine deficiency was indirectly affecting my niacin levels. After an initial dose of lysine I felt almost euphoric. This effect quickly leveled off. I am wondering if, after decades of fatigue, my body likes homeostasis and is counteracting the effects of nutrients that I clearly need. This has happened in the past with medications. After a few doses, they are basically rendered useless. This applies to antihistamines, psychotropics, painkillers, and so on.

Possible Secondary Pellagra

Is it possible that I have secondary pellagra? I initially dismissed the idea of pellagra as the symptoms seemed more severe than mine. My dermatitis was minor compared to the pictures online, I had an explanation for the dizziness (diagnosis of dysautonomia), the diarrhea has been an issue on and off, so it didn’t seem significant, and my mental confusion didn’t seem enough to qualify as dementia and yet I can now see that I did have the 3 Ds of pellagra despite adequate niacin intake. I don’t eat corn and rarely eat grains and have a diet high in niacin but I had many of the symptoms of pellagra including sensitivity to light, dermatitis, diarrhea, dizziness, feeling cold all the time, brain fog and mental confusion, difficulty falling asleep and weakness.

Interestingly, some of these symptoms overlap with thiamine deficiency symptoms and I feel very sure that I have had severe thiamine deficiency because I have also had tingling sensations and muscle pain, as well as a history of high intake of sugar, carbs and alcohol and a very positive response to thiamine and benfotiamine.

Going Forward: More Questions

My plan is to continue with my supplements and a low sugar diet and low phytanic acid foods. I am hopeful that this will completely eliminate the dysautonomia and leave me free to work on my other symptoms. My brain function is good when the dizziness is kept at bay and I feel more optimistic and happy and have a small but noticeable uptick in energy and strength.

Although I have made huge strides in my health, I am left with some lingering questions:

  1. I have been on high doses of many B vitamins for years and yet it seems that my body still craves them. Could years of undiagnosed Celiac Disease have affected the enzymes that take vitamins and converts them to the active form and transports them into organs and tissues? Is it realistic for this to still be happening after eight years of being gluten free?
  2. The literature glosses over the conversion from niacin to niacinamide as something that the body can easily do, however, I have taken high doses of niacin and inositol hexanicotinate without benefit and eat a diet rich in niacin foods without getting the benefits that I got from small doses of niacinamide. Is it possible that some people have challenges converting niacin to niacinamide? I have yet to find any research to support this other than a study suggesting that niacinamide is twice as effective as niacin. However, I was taking triple the dose of niacin with no benefits. I believe that my body is inefficient at converting niacin to niacinamide. If anyone knows of a specific illness that may cause this I would be interested in learning more.
  3. Is my reaction to phytanic acid foods due to a deficiency in thiamine (despite taking very large doses for years) or is there another reason that my body appears not to tolerate phytanic acid foods?
  4. Are there still more vitamin or amino deficiencies that I am yet to discover? In the future I will probably do another OAT or Nutreval to see whether my levels have improved but for now I want to let my body get used to the lower phytanic acid levels and see if things settle.
  5. My body seems to like homeostasis. For the first couple of days that I took niacinamide I noticed that I felt very warm, but I have returned to feeling cold all of the time. The dizziness has improved and it had almost disappeared but then crept back in. Could this be due to more vitamin or amino deficiencies that I am yet to discover, problems with my enzymes or is there some sort of ANS wiring issue that is better addressed by neural retraining?
  6. Sleep is another big issue for me and until I consistently sleep well without excessive NREM dreaming it is possible that these other issues will not fully resolve, but progress is exciting and I am hopeful that the last puzzle pieces will fall into place.

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10 Comments

  1. Tanya have you had proper Lyme disease testing? I’m sorry to say I’m not sure what that actually is for NZ? But if it’s similar to the ELISA test we have here in the states it’s not. The test has to have bands 31 and 34 to be at least more accurate in determining a diagnosis of Lyme. Some say the ELISA is only like 40% accurate, and it also depends on when you get tested. Very tricky this lyme disease can be. Many people have been negative over and over on ELISA, but still positive for Lyme on the proper test. Google Dr Alan MacDonald, a pathologist who has been studying Lyme in his spare time for 30 years. Dr Richard Horowitz is another good reference point.

    Be interested to get your take on Lyme disease Dr Lonsdale ?

    Thanks, Mike

    1. Lyme is not considered a problem in NZ so I am probably okay, but it’s definitely something I have considered as worth considering. At this stage, things seem to fit more with the biochemical model and issues with inactive or slow enzymes. That fits with my history of celiac disease not being diagnosed for many many years and potentially affecting enzyme function, and then add in genetic predispositions to problems with fatty acid metabolism and thiamine transport, plus a difficulty of unknown origin in utilizing niacin. I will give it more time with the vitamins and if I don’t have success with this approach I can go back and review viruses or Lyme. At this stage, I have had a positive response to the B vitamins and dietary changes so it looks like I am on the right track.

      1. Yes lucky you residing in that little piece of heaven located off the beaten path of this troubled world. But the world is getting smaller and warmer every day. There is thought that the spread and transmission of Lyme maybe due to more than just tick bites. It would be interesting to find out if you do decide to test for it someday, what your results are. IGenex is the lab in the States that Seems to do the more correct test. But again it Seems to depend on what strain of the pathogen you may have and the co-infections. As usual finding the true answer is a journey full of haze and complexity. Today just enjoy that clean, green, and beautiful country of yours….good luck on your path forward 🙂

        Dr Lonsdale I know how you like to call Thiamine deficiency “The Great Imitator”. I keep coming across that same description used for Lyme disease. Makes me go to sugar being the gasoline( as you say)to all immune system fires. Nobody is going to have a shot to beat any of these diseases unless they stop putting sugar in their tanks.

  2. The CFS/ME may not related gene level. Our body controlled five major control system. If the 5 major control system is sleep or blocked, we have many abnormal conditions and we call the CFS/ME. The pathogenic source may EMR or negative charged bedding or high uric acid and more. If we cure the CFS, remove the pathogenic source and reactivation body control system. The invisible disease needs a breakthrough idea. I met some CFS patient. They were sleeping above the water veins(underground water stream emitted strong electromagnetic radiation). The CFS may instant fix.

  3. To Tanya Dawson:This is a very interesting post and requires some comment. I am pretty sure that the biochemical lesion is caused by a defect affecting the function of the HACL gene. The major clue lies in the report that she accumulates phytanic acid. Unfortunately, I can only describe the effects in technical terms. The processing of certain fatty acids and phytol (phytol is found in milk and meat and is the precursor of phytanic acid) takes place in an organelle within the cell known as a peroxisome. This process is governed by what is known as alpha oxidation. The recent discovery that thiamine pyrophosphate (TPP), NOT SIMPLE DIETARY THIAMINE, has to be synthesized and imported into the peroxisome as the cofactor for HACL function is of great importance. Therefore, the collection of phytanic acid is an upstream effect from the lack of TPP. But the downstream effects are just as important. The processing by alpha oxidation leads to beta oxidation that prepares the fatty acids for use as fuel and they have to be transferred to the mitochondria to create energy. To use a simple analogy, if gasoline in a car doesn’t get into the cylinders, the gasoline is not consumed. However, the downstream effect is the lack of fuel to run the engine. There are three possible reasons for Tanya’s problem, all of which have genetic overtones.
    1. A genetic defect in the HACL gene
    2. A lack of ability to convert thiamine into TPP.
    3. Lack of a TPP transporter. This is a genetically determined protein that transports TPP into the peroxisome, So what can we do from a practical point of view?
    Even if there is a genetic defect in the HACL gene, it is possible that using pharmaceutical doses of TPP might manipulate the gene by epigenetic mechanisms.
    It is also possible that lack of energy from thiamine deficiency results in defective conversion of thiamine into TPP.
    The best chance of success is by the use of Lipothiamine because that is a form of thiamine that does not require a transporter. Add to this large doses of magnesium and a well-rounded multivitamin. A series of intravenous water-soluble vitamins, together with the oral doses I have advocated might be better. I apologize for the technicality, but most people that have this kind of symptomology have become surprisingly learned in biochemistry. They have often been rejected as psychosomatic neurotics because their symptoms do not fall neatly into the usual and customary concept of presently acceptable forms of disease. If I am correct here, a perceptive reader who accepts and tries to use its practical applications will conclude that much of modern medicine needs to be junked.

    1. Thanks so much for your comments.

      I do have genetic mutations in the thiamine transport genes! I don’t have comprehensive testing as 23andme only measures a fraction of the genes but what has been measured shows several mutations.

      THIAMINE SOLUTE CARRIERS
      SLC19A2 10 genes measured, 5 mutations (50% of genes have mutations)
      SLC19A3 14 genes measured, 6 mutations (42.8% of genes have mutations)
      SLC25A19 6 genes measured, 2 mutations (33.3% of genes have mutations)

      SLC19A2 rs16862199 (C) CT *
      SLC19A2 rs17518769 (A) AG *
      SLC19A2 rs17577986 (G) AG *
      SLC19A2 rs1883167 (G) AG *
      SLC19A2 rs1983546 (A) GG
      SLC19A2 rs2038024 (C) AA
      SLC19A2 rs3737682 (G) AA
      SLC19A2 rs3862937 (A) AG *
      SLC19A2 rs6427193 (C) TT
      SLC19A2 rs6656822 (T) CC
      SLC19A3 rs10933203 (A) AC *
      SLC19A3 rs10933204 (A) AG *
      SLC19A3 rs11682956 (T) GG
      SLC19A3 rs11694828 (A) GG
      SLC19A3 rs12105737 (C) TT
      SLC19A3 rs12185721 (T) CC
      SLC19A3 rs13025803 (T) CC
      SLC19A3 rs17372264 (C) TT
      SLC19A3 rs17372407 (C) TT
      SLC19A3 rs4973216 (C) TT
      SLC19A3 rs6708238 (T) CT *
      SLC19A3 rs6713116 (T) TT **
      SLC19A3 rs7585481 (C) CT *
      SLC19A3 rs932134 (T) CT *
      SLC25A19 rs10852762 (C) AA
      SLC25A19 rs1809352 (A) AG *
      SLC25A19 rs2291033 (A) CC
      SLC25A19 rs2306219 (C) TT
      SLC25A19 rs9889601 (T) GG
      SLC25A19 rs9944529 (C) AC *

      TRANSKETOLASE
      TKT 17 genes measured, 5 mutations ALL homozygous (29.4% of genes have mutations)
      TKTL1 13 genes measured, 7 mutations mostly homozygous (53.8% of genes have mutations)
      TKT rs1051485 (C) TT
      TKT rs11130362 (T) CC
      TKT rs12493802 (T) TT **
      TKT rs17052920 (C) TT
      TKT rs17234092 (T) CC
      TKT rs3163 (T) CC
      TKT rs3736151 (T) CC
      TKT rs3736156 (A) AA **
      TKT rs4687715 (A) AA **
      TKT rs4687717 (T) TT **
      TKT rs4687718 (A) GG
      TKT rs735940 (T) CC
      TKT rs7633966 (G) TT
      TKT rs7646760 (C) AA
      TKT rs7650103 (A) AA **
      TKT rs9850440 (C) TT
      TKT rs9864057 (A) GG
      TKTL1 rs10126322 (T) CT *
      TKTL1 rs12010971 (C) AA
      TKTL1 rs12014497 (A) GG
      TKTL1 rs151008020 (T) CC
      TKTL1 rs17174296 (G) AA
      TKTL1 rs17336718 (T) CC
      TKTL1 rs2239466 (G) GG **
      TKTL1 rs2872817 (G) GG **
      TKTL1 rs5986969 (G) GG **
      TKTL1 rs5987245 (G) GG **
      TKTL1 rs6655282 (A) GG
      TKTL1 rs766419 (G) GG **
      TKTL1 rs766420 (G) GG **

      Gene cards also mention TRPV3 as related to thiamine transport/Beriberi. I only have 3 SNPs measured but 100% have mutations!
      TRPV3 rs395357 (T) TT **
      TRPV3 rs422159 (A) AG *
      TRPV3 rs7217270 (A) AG *

      Your reminder about the lipothiamine is timely. I had tried it in the past without success, but now that I have niacinamide on board and my system is working better I started lipothiamine yesterday and I seem to be tolerating it well. I think the ALA was too much for my system with the niacin not working and needing to switch to the niacinamide. I will see how I go and increase lipothiamine in a week or two when I am sure it is safe to go higher.

      Are you aware that Swanson sells thiamine Cocarboxylase?
      [thiamin (vitamin B-1) diphosphate]
      I don’t think I have seen this form mentioned on the Hormones Matter website.

      “They have often been rejected as psychosomatic neurotics”
      Very perceptive of you! I have been diagnosed with bipolar disorder and borderline personality disorder, both of which were later debunked by a senior doctor. I have been on a cocktail of antipsychotics, mood stabilisers, antidepressants, anxiolytics and more. None of these were helpful. More recently I have been diagnosed with somatoform disorder which in my opinion is a cop out.

    2. I noticed on page 267 of your book that you measured the number of SLC gene mutations. I only have 14 SLC19A3 SNPs reported on my 23andme data but you show people with 17 mutations so you clearly have more data. I am curious how many SNPs were measured for SLC19A2, SLC19A3 and SLC25A19 and also where the tests are done. I am wondering if it is worth me getting more comprehensive genetic testing done, but perhaps I already have all the information that I need.

      I forgot to mention that I couldn’t get IV vitamin B from my doctor but I am trialling a transdermal B complex from B12oils. It doesn’t have folate so I have to take that separately but it does have b1, b2, b3, b5, b12 and biotin. So far I am not noticing any improvement after 2 weeks but I will finish the bottles and see if it helps. Transdermal was the best option I could find for parenteral B vitamins. If these don’t work I will try Patch MD transdermal and see if they are better.

  4. Have you ever been tested for Vitamin D3? and if so what were your results?Also what was your first B12 test results? BEFORE you started taking any supplements? I have learned that the reference range is set too low. Here in the US 800 is optimal for B12 and 80 is optimal for D3. One also needs to take cofactors for D3, magnesium and K2.
    I can’t believe the difference in how I feel after taking 1,000mcg methylcobalamin, (Vit B12) with avocado and banana and my D3 and cofactors. I have my brains back, the depression and fog are gone, the peripheral neuropathy is gone, the vertigo is gone, my memory is back, the coldness in my extremities is gone and more!
    You may also want to consider a gene test for MTHFR and more. I have the mutant MTHFR and that interferes with how I process Folic Acid, which interferes with how I absorb B12. Also note that once on B12 supplements, a test will only show what is in your system, not what you are absorbing, Join some of the Vitamin B12 deficiency and Vitamin D deficiency facebook groups for more info.

    64-72IU per lb you weigh of D3 daily plus co-factors 
    400mg Magnesium (minimum)
    K2 MK7 100-200mcg or MK4 1-5mg

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