thiamine - Page 4

Juvenile Rheumatoid Arthritis: An Unusual Treatment

Published on
20197 views
juvenile arthritis thiamine

Case example 6.13 on page 248 of our book, Thiamine Deficiency Disease, Dysautonomia and High Calorie Malnutrition, is the story of a child with the conventional diagnosis of juvenile rheumatoid arthritis. The case is so important that I want to discuss it in detail, pointing out the reasons and the rationale for the treatment that was used.

Juvenile Rheumatoid Arthritis: A Case Study

An-eight-year-old Caucasian girl was first examined for juvenile rheumatoid arthritis, a diagnosis made elsewhere. She had been born prematurely with a birth weight of 1.6 kg. Early development was normal and she was receiving high scholastic grades. Six months previously her right knee became swollen and stiff. Fluid was aspirated and she received an intraarticular injection of corticosteroid. The laboratory tests showed no systemic effect and culture of the synovial fluid was sterile. Three months later the same knee became swollen and the joint was reported to be warm to the touch and tender. Laboratory tests were again reportedly negative. Appropriate doses of acetylsalicylic acid (aspirin) were started, which she was unable to tolerate because of nausea.

The first clue here is the premature birth. It had long been known that there was a legacy for premature birth and this has been confirmed recently  The second clue was that the laboratory studies were reportedly normal repeatedly, giving rise to speculation that this was an unusual example of  juvenile rheumatoid arthritis. The third clue, unlikely as it may sound, was the report of high scholastic grades. A well-endowed brain requires more energy than a less well-endowed brain. The nausea is a symptom produced by the brain, meaning that the aspirin had sent a signal into it, implying undue sensitivity of the cells receiving the signal. That kind of hypersensitivity reflects mild brain oxygen deprivation (hypoxia) or pseudohypoxia (inefficient oxidation)

Other symptoms were constantly cold hands, recurrent abdominal pain with nausea, easy fatigue, and pallor. Stiffness in the joint was more marked in the morning. Sleep requirement was noticeably increased compared with her two siblings and she was described as persistently irritable and bad tempered. On examination she was normal for height and weight and looked pale. Filiform papillae on the tongue were prominent. The heart rate was 140 bpm and the blood pressure 120/66 mm Hg. Both legs were mildly cyanotic (dusky blue) and the feet cold to the touch. Dermographic stimulation (with a fingertip) produced obvious blanching, which was more marked on the right leg. The right knee was swollen with some patellar tap (indicating fluid in the knee joint) and the circumference of the left thigh was measurably greater than that of the right. A qualified dietitian reported that her nutrient intake was adequate and she was counseled. Two weeks later she developed some swelling in the left knee. Examination revealed facial flush with circumoral pallor, overactive heart, audible femoral pulse by auscultation, unpredictable deep patellar knee reflexes varying from nonreactive to double in nature and mild cyanosis of the feet and hands together with well-marked hippus of the pupils (light stimulation produced alternate dilatation and constriction). Laboratory studies revealed an abnormal TPPE in red cell TKA, elevation of serum B12 and moderately increased ratio of creatine to creatinine in urine. There are a lot of clinical clues here, many of which I had discovered from experience over many years.

      • Increased sleep requirement. I had noticed that this was a reliable clinical test of energy deficiency. This has recently been confirmed .
      • Cold hands, recurrent abdominal pain with nausea, easy fatigue, fast heart rate, cyanotic legs and cold Without going into details, these symptoms are all due to oxidative dysfunction in brain cells.
      • Prominent filiform papillae on the tongue. These are part of the tongue surface structure. Although I do not know the mechanism, I have repeatedly observed this in children whose symptoms were resolved by the use of megadose thiamine. They look like little red spots because I assume that they are probably inflamed. The red spots disappear after the patient is reconstituted.
      • Demographic stimulation with a fingertip. Both children and adults can show this phenomenon. In the wake of the stroking action of the fingertip, a blanching occurs, producing a white figure on the skin. I have assumed that this is a local reflex affecting skin capillaries due to changes in autonomic nervous system controls. It does not appear in biochemically healthy people.
      • Flushed cheeks with circumoral pallor. This is something I have observed repeatedly in children affected by oxidative inefficiency of brain. This is reported in the medical literature as a typical appearance of streptococcal infection. My observations belie this and I think that it is simply a marker of stress and not unique to infection.
      • Audible femoral pulse. By placing a stethoscope over the inguinal ligament, the pulse was clearly audible. It is a characteristic described in the symptoms and signs of beriberi. In an adult case of beriberi the pulse can be audible without the use of a stethoscope.
      • Laboratory studies described. These are all typical of poor energy metabolism from thiamine deficiency.

Thiamine Treatment and Progression of Recovery

After informed consent of both the child and her parents, thiamine in the form of thiamine tetrahydrofurfuryl disulfide (TTFD), 150 mg per day, and a comprehensive high-potency multivitamin were started. TTFD is a synthetic derivative of allithiamine, a form of naturally occurring thiamine discovered in garlic. Its biologic action is that of thiamine but it has been found to have a greater biologic potency in animal studies and eventually in humans. Its action is that of megadose dietary thiamine  by stimulation of energy production.

Two Months

Two months later it was reported that there was no change in her knees but that her disposition was improved. Body weight had increased by 1kg. Recurrent cyanosis and coldness of the feet were still present. The right knee was swollen and there was about 5° of flexion deformity. No patellar tap could be elicited.

Three Months

Three months later she reported the disappearance of pain and stiffness and her activity included running and riding a bicycle.

Seven Months

After seven months she reported full physical activity without pain or stiffness and great improvement in personality. She looked well. There was mild livid mottling of the skin in the legs. Blood pressure was 100/60 mm hg and heart rate was normal. Thigh circumference was still greater on the left, but no deformity or swelling was detectable in either knee. Red cell TKA had increased and the TPPE had fallen to 1.8%. The dose of TTFD was decreased to 100 mg per day. In addition to the physical improvements, there was noted improvement in personality and behavior. I would like to suggest that irritability and bad temper is usually considered to be the personality of a child in pain and it might be, however, my experience with bad temper in children without arthritis is that the personality changes dramatically when they receive megadose thiamine. The expression of  normal personality is a function of a healthy brain, dependent on cellular energy.

A Relapse

In the next few months it was revealed that there had been some stresses within the family, although their nature was not discussed, and eight months after decreasing the dose of TTFD there was found to be some synovial effusion and swelling in the left knee. Urinary ratio of creatine to creatinine had again increased. The dose of TTFD was increased to 200 mg/day. Four months later TTFD was replaced by thiamine hydrochloride, 300 mg per day. General health was good and she was asymptomatic. Urinary creatine/creatinine ratio had decreased. At the age of 12 years when last examined, she was completely well and free from symptoms. It should be noted that the re-emergence of her symptoms was in direct relationship to the additional energy requirement brought on by the family stress. Stress is defined as any form of environmental attack requiring an energy dependent adaptive response, whether this is a prolonged mental struggle, trauma or infection. The reappearance of joint pathology suggests that the family stress had siphoned off adaptive energy for brain use: hence the decision to increase the dose of TTFD. Additionally, a higher than normal urinary ratio of creatine/creatinine is evidence of an energy deficit. When the high ratio decreased in this patient, it indicated an improvement in energy metabolism

Points of Consideration

A study of 225 juvenile idiopathic arthritis cases (JIA) and 138 playmate-matched controls has been reported. Compared to the controls, preterm delivery was associated with JIA (3). Premature infants constitute a risk group for thiamine deficiency. Thiamine diphosphate (TDP) was determined in whole blood in the first days of life and approximately every two weeks in 111 premature infants. TDP concentrations showed an age-dependent decline. Obviously, this raises the question of the long-term legacy because this patient was eight years of age. Without going into the details of the laboratory study, the effect of adding thiamine pyrophosphate in showing an acceleration in red cell transketolase activity proved that there was indeed thiamine deficiency. Glucose metabolism not only provides energy for physical activity that also mediates a variety of physiological processes through the formation of complex signaling networks. Recent studies have indicated that glucose metabolism plays an important role in the pathogenesis of rheumatoid arthritis. Since thiamine plays a vital part in glucose metabolism, it is not too big a jump to see why megadoses of thiamine had this remarkable effect. There is much evidence that energy metabolism plays an enormously important part in the etiology of many if not all diseases. Perhaps the use of TTFD should be explored in the treatment of other inflammatory diseases. The length of treatment, measured in many months, is a very strong indication that this was far from being a simple dietary phenomenon. There may have been a fundamental genetic abnormality, but it raises the question whether thiamine deficiency during pregnancy can give rise to a prolonged legacy that interferes eventually with the growth of the child.

We Need Your Help

More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter.

Photo by Lucaxx Freire on Unsplash.

This article was published originally on September 12, 2019. 

Rest in peace Derrick Lonsdale, May 2024.

Related posts:

health, healing and illnessThe Exquisite Simplicity of Health and Illness: Mitochondria and Energy It all comes down to energyIt All Comes Down to Energy responsibility in healthA Question of Responsibility in Health and Disease Reye's syndrome and thiamineRecovery From Reye’s Syndrome: A Case Report

You might be interested in

Introducing a New and Improved Thiamine Testing Platform

Published on
6289 views
new thiamine testing lab

Introduction

It is my great to pleasure to introduce a new thiamine testing platform, the Erythrocyte Transketolase Activity Coefficient (ETKAC), offered by the Clinical Immunology Laboratory, in North Chicago, IL. ETKAC is a functional enzymatic test designed to evaluate the activity of the thiamine-dependent enzyme, erythrocyte transketolase, both in its resting/uninfluenced and activated state. Compared to other available thiamine testing assays, the ETKAC provides functional assessment of in-cell activated thiamine and evaluates potential abnormalities in thiamine-dependent enzymes. The test is currently available via physician request, but we hope to provide more direct access in the future.

What Is Thiamine Deficiency and Why We Need Better Testing

Thiamine (vitamin B1) is the precursor to the coenzyme thiamine pyrophosphate (TPP), also termed thiamine diphosphate (TDP/ThDP). It is an essential B vitamin in humans that is required for carbohydrate, fatty acid, and even protein metabolism. As such, it is critical for health and plays an important role in nerve function.

TPP, the bioactive component of thiamine, drives enzymes found in multiple metabolic pathways that include the pentose phosphate pathway, citric acid cycle, and glycolysis. In this way, thiamine contributes to the structure of the nervous system by inducing energy production (ATP), and synthesis of vital compounds such as lipids and acetylcholine. Without thiamine, mitochondrial respiration is suppressed and ATP capacity wanes.

Frank or severe deficiencies in thiamine result in Beriberi and Wernicke-Korsakoff Syndrome. These syndromes are well understood and, in some cases, can be attributed to alcoholism and malnutrition. Despite being well understood, frank deficiency may be missed clinically, especially in non-alcoholic and presumably well-nourished populations, but also in the early stages of the deficiency when symptoms may be attributed to other common disease processes. Some of the patient populations with underlying thiamine deficiency who may benefit from thiamine testing include those diagnosed or suspected of chronic fatigue syndrome, fibromyalgia, individuals who are diabetic, or who are experiencing neurocognitive or neuromuscular symptoms. Pregnant women should also be tested for deficiency, especially when hyperemesis gravidarum or pre-eclampsia are present. More information on patient populations affected by insufficient thiamine can be found here.

Unfortunately, traditional testing may miss subclinical, functional, and genetically-induced thiamine deficiencies. Plasma testing, for example, is highly susceptible to dietary fluctuations in thiamine. If an individual has recently consumed thiamine-rich foods, the test may indicate thiamine sufficiency, when in reality, the individual is truly deficient. Likewise, if the individual is deficient in magnesium, which is required to activate thiamine (phosphorylate free thiamine into the bioactive thiamine pyrophosphate or TPP) and/or the individual has a genetic defect that diminishes the activity of any portion of the thiamine metabolic pathway, plasma thiamine tests will appear normal even though the individual is deficient. With magnesium deficiency, free thiamine may be sufficient, but bioactive thiamine will be deficient. Similarly, with thiamine-related genetic variants, free thiamine and perhaps even TPP will be within range, but the ability to use thiamine effectively will be impaired.

Whole blood TPP testing, although more accurate than plasma-based assessment and not susceptible to fluctuations in dietary intake, is still problematic in some cases. It is susceptible to supplemental intake [Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, pg 661], which means that if the individual is supplementing with thiamine either alone or in a daily multi-vitamin, and/or is on a thiamine-repletion protocol due to a recognized deficiency, the testing may falsely indicate that he/she is no longer deficient, despite symptoms to the contrary. Since whole blood TPP assess the bioactive form of thiamine, TPP, it is more sensitive to some functional deficiencies. Unfortunately, it is not sensitive to whether or not the individual has the capacity to use that TPP because of genetic abnormalities or chronic health issues.

Measuring Enzyme Activity to Assess Nutrient Status

Rather than measure the nutrient in circulation, a more accurate form of testing involves the measurement of enzyme activity in erythrocytes or red blood cells. Since enzymes depend upon specific vitamins for functionality, when we measure the enzyme activity both in its basal state (resting/uninfluenced) and in response to the nutrient, we can reliably assess nutrient status. This will more accurately portray tissue concentrations than circulating concentrations. In that regard, enzyme activity tests are considered functional assessments of nutrient status.

Enzyme activity tests have been used for decades to assess a number vitamins and minerals. For example, glutathione reductase activity is used to measure riboflavin (vitamin B2) status. Similarly, the enzyme transaminase is used to measure vitamin B6 activity. Minerals like zinc and magnesium are best evaluated intracellularly instead of just measuring circulating levels.

To measure thiamine, the erythrocyte transketolase test is used. It was initially developed around 1962 and further improved and utilized through the 1970s. However, as time passed, the assay fell out of use in favor of the quicker and more cost effective, though less clinically sensitive, plasma and whole blood measures.

Recognizing the increased incidence of modern thiamine deficiency and a need for more sensitive testing, the scientists at the Nutritional Biomarker Laboratory (NBL), in the University of Cambridge, have developed an improved erythrocyte transketolase activity coefficient, or EKTAC, test. A slightly modified form of the NBL assay has been validated and applied at the lab in which I co-direct,  Clinical Immunology Laboratory (CIL), in North Chicago, IL.

Evaluation of Thiamine via Erythrocyte Transketolase Activity

The transketolase enzyme is a TPP-dependent enzyme that can be found in the cytoplasm of a variety of tissues including blood cells and the liver. The Erythrocyte Transketolase Activity Coefficient (ETKAC) measures tissue level TPP as a function of transketolase ratio with and without the presence of exogenous TPP. That is, enzyme activity is assessed in its basal state and after TPP is added. If enzyme activity increases in the presence of TPP, it indicates deficiency. How much enzyme activity increases tells us how bad the deficiency is. Table 1. below shows the cutoff values between sufficiency and deficiency. The ETKAC range is well established in the literature and by the consensus of the clinical chemistry associations (AACC/ADLM).

Table 1. ETKAC reference ranges.

Thiamine Status ETKAC
Sufficiency <1.15 (less than 15% increase)
Insufficiency – Moderate Risk of Deficiency) 1.15-1.25 (15-25% increase)
High Risk of Deficiency >1.25 (more than 25% increase)

When a Normal Transketolase Test May Not Be Normal

While the measurement of the transketolase activity in response to thiamine is among the most sensitive and specific tests of thiamine deficiency at the tissue level and its results tell us whether the individual is able to use circulating thiamine effectively, there are caveats. There are instances where transketolase activity in response to thiamine will appear normal or near normal (ETKAC values close to 1.0), but clinical symptoms and basal activity of the enzyme suggest problems with thiamine. This is because enzyme kinetics have been altered either genetically or environmentally. Some examples of conditions that alter enzyme kinetics include:

  1. Genetic mutations: Some mutations in the transketolase enzyme cause a lower affinity of the enzyme to TPP. Here, the affected individual will show falsely normal ETKAC but low basal activity (i.e. without addition of exogenous TPP). In this case, the clinician can use this information to manage these individuals and potentially embark on genetic testing, when indicated by paying closer attention to enzyme basal activity.
  2. Reduced transketolase levels. Individuals with chronic low levels of thiamine can undergo reduction of transketolase levels. This may show up as normal ETKAC but low basal activity. This effect seems to correct upon repletion of thiamine. In this case, an individual will have a normal ETKAC (close to 1.0) that eventually increases as transketolase enzyme levels increase; thus the deficiency is unmasked. This happens because of the increased expression of apoenzyme (non-thiamine bound enzyme) without concomitant increases of sufficient thiamine concentrations. After this, as the patient is more replete with thiamine, ETKAC corrects back to true normal levels near 1.0.
  3. Increased ETKAC. Some patients with bronchial and breast carcinomas may have falsely elevated ETKAC. It is thought that this is likely due to conversion issues from thiamine to its TPP forms (active co-enzyme). Use of basal activity parameter in this case will assist in excluding the possibility of aberrant enzyme expression.
  4. Additional nutrient deficiencies. Other nutrient deficiencies may affect total enzyme levels. For example, Vitamin D has been shown to increase the expression of transketolase by close to 4 fold (400%) in some in vitro studies. Similarly, if zinc or other gene expression factors are needed for transketolase transcription, then the same effect from the above point would occur until these factors are first addressed.
  5. Clinical conditions and medications. There are known clinical conditions (e.g. liver disease, uremic neuropath, gastrointestinal dysfunction, polyneuritis, diabetes), and drugs that can reduce the levels of the apoenzyme.

It is for these conditions and potentially others, that assessing and reporting the basal activity of the enzyme, along with its activation quotient is useful.

How to Interpret Basal Activity Results

Although the cut-offs for basal activity are not as clearly understood as those for the ETKAC test, a value of 0.59 U/gHb or less has been shown to indicate thiamine deficiency across different patient populations. The Clinical Immunology Laboratory group has recently confirmed the lower limit of 0.59 U/gHb, and established an upper normal limit of 1.00 U/gHb.

Table 2. Proposed ranges for ETK basal activity tests.

ETK Basal Activity
Lower Cut-off 0.59 U/gHb
Upper Cut-off 1.00 U/gHb
Clinically Verified Cut-off for Thiamine Deficiency given Normal Enzyme Levels <0.59 U/gHb

Conclusion

Thiamine, in its active form TPP, functions as a rate-limiting co-enzyme in multiple pathways related to carbohydrate and energy metabolism. Deficiency of thiamine results in a host of seemingly unconnected symptoms that range in severity depending on the degree and duration of deficiency. It is not uncommon for frank and subclinical thiamine deficiency to be missed due to the cluster of seemingly unconnected symptoms, but also because of unavailability of sensitive and accurate testing. The ETKAC assay has an advantage to other thiamine assays due to it being a functional enzymatic test that can detect transketolase abnormalities, as well as thiamine status, as discussed above. In contrast, directly measuring plasma thiamine or whole blood TPP can lead to false normal results or miss a functional deficiency, respectively.

The ETKAC and Basal Activity assays have not been readily available in the United States for clinical testing until now. The Clinical Immunology group in North Chicago, a high-complexity CLIA-approved laboratory, has recently validated an affordable, and easy to order ETKAC assay. The test currently requires ordering through a physician; however the laboratory is planning on providing a direct-to-consumer service in the near future. CIL’s ETKAC assay provides both quotient and Basal Activity parameters in order to give patients and doctors the results they need for appropriate treatment. More information about the test, the requisition and sample shipping instructions can be accessed through CIL’s webpage. CIL can be contacted for questions regarding ETKAC ordering and/or interpretation. More information about ETKAC can be found on the laboratory’s website.

We Need Your Help

More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter. 

Photo by Louis Reed on Unsplash.

Related posts:

Thiamine deficiency, hyperglycemia gateway to diseaseHyperglycemia and Low Thiamine: Gateways to Modern Disease challenges to thiamine sufficiencyThreats to Thiamine Sufficiency in the 21st Century It all comes down to energyIt All Comes Down to Energy

You might be interested in

Notes On Thiamine Status During Pregnancy

Published on
5749 views
Thiamine pregnancy

Currently, I am researching thiamine status during pregnancy for a series of articles to be published by the newly formed Thiamine Advocacy Foundation. Over the next few months, I will be publishing snippets of that research, and of course, when the project is finished, I will let everyone know and provide links to the articles. Today, I want to discuss a study published in 1980 about thiamine deficiency in pregnant and non-pregnant women.

For this study, the thiamine status of 60, presumably healthy, pregnant women was assessed across multiple times points (second trimester, third trimester, and in the immediate postpartum. Not all women completed all assessments. Food diaries were collected for three days preceding each test time to identify thiamine intake and a lifestyle survey to assess contraceptive use, smoking and alcohol history was given. Samples and diaries from 20 non-pregnant women were collected as well.

To determine thiamine status the erythrocyte transketolase test with thiamine pyrophosphate activation was used. This is among the reasons I found this study useful. It is only one of only a few studies of this population using the transketolase test. Recall from Dr. Lonsdale’s discussion Understanding the Labs (and here), the transketolase test is arguably a more accurate measure of thiamine status than plasma, serum, and some measures using whole blood.

Using the transketolase test, researchers found that 30% of the non-pregnant women were deficient in thiamine as were 28-39% of the pregnant/postpartum women depending upon the phase of pregnancy. Importantly, not all women were deficient at all test times. This means that the deficiencies likely waxed and waned relative to other variables like intake and stressors. Intake was considered sufficient in all but 10 of the women and for those 10 women it was only minimally below the RDA. Additionally, the researchers reported that previous oral contraceptive use had no apparent effect on thiamine status during pregnancy but that there was a trend for an increased risk of deficiency with previous pregnancies.

While this was a small study, the percentage of women who were deficient in thiamine was striking, especially the non-pregnant controls. If thiamine is deficient before pregnancy, the risk of severe health issues across pregnancy increases. Here though, none of the women who were deficient in thiamine displayed the classical symptoms of thiamine deficiency, although details were lacking. Moreover, all of the women delivered presumably healthy children, or at least healthy weight children, as other parameters were not measured. Again, this finding is important because it suggests that either 1) what we expect to see with deficiency during pregnancy is not completely accurate, 2) that the persistence or chronicity of the deficiency matters, and/or 3) that it is not simply a deficiency in thiamine that causes some of the more severe complications of thiamine deficiency during pregnancy.

I have written previously about the mismatch between classically defined symptoms of thiamine deficiency and what we are more likely to see with modern diets and stressors. I suspect this applies to pregnancy as well. I have also written about how thiamine status is likely to change relative to intake and demand. Rodent studies have shown that the typical neurological symptoms of deficiency do not appear until there is 80% decline of thiamine stores. Since we store a little over two weeks of thiamine, one would have to completely eliminate intake for more than a week before those symptoms might emerge, and even then, it might be a while before they were recognized. This is certainly a factor with hyperemesis gravidarum, the severe vomiting that some women experience during pregnancy but perhaps not in non-HG related pregnancies.

It is important to note, however, HG and thiamine deficiency go hand in hand. Thiamine deficiency, along with other deficiencies, may trigger HG (think gastrointestinal beriberi) in the first place, and once the vomiting begins, will easily deplete thiamine stores. None of the women in the current study developed HG, however, or other complications, so that leads me to believe, that we need additional triggers and we need persistent or chronic thiamine deficiency before noticeable complications arise.

In this study, all we have are indications of deficiency at specific points in time. We have no evidence of how long those deficiencies were present or whether other variables were somehow buffering maternal and fetal health such that the typical complications associated with thiamine deficiency were not observed. Even so, a finding that upwards of 30% of a test population of women, both non-pregnant and pregnant thiamine deficient speaks to how common this deficiency may be and how close to the precipice of more severe health issues a percentage of the population resides. Although observable changes in health were not reported or perhaps even recognized in this report, knowing what we know about thiamine’s role in energy metabolism, it is not unlikely that there were many negative metabolic patterns brewing just below the surface.

We Need Your Help

More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter. 

Photo by David Travis on Unsplash.

This article was published originally on November 29, 2023.

Related posts:

It all comes down to energyIt All Comes Down to Energy Thiamine deficiency, hyperglycemia gateway to diseaseHyperglycemia and Low Thiamine: Gateways to Modern Disease attack and defendCoordinating the Body’s Defense

You might be interested in

The Exquisite Simplicity of Health and Illness: Mitochondria and Energy

Published on
17750 views
health, healing and illness

For years I have struggled to get people to understand the relative simplicity of what causes us to get sick. Our medical model implies that each disease has a specific cause, and therefore, has a specific treatment. If you look seriously at what makes us tick, there are several obvious factors involved. Yes, we are provided with a “blueprint”, given in code called DNA, by our parents. Since the discovery of DNA, medical research has emphasized almost to exclusion of other factors, that genetics is the primary research area. The most amazing recent finding is that our cellular genes (the blueprint) can be manipulated by our diet and lifestyle.

Diet and Stress

Even though the great Hans Selye studied the effects of physical stress on animals, we have neglected it in relationship to human health. He said that humans were suffering from what he called the diseases of adaptation. What he meant by that was that any form of “stress” has to be met by an adaptation that requires a huge amount of energy. The brain causes the body to go into a defensive mode when we are attacked by a microorganism and it should not be surprising that it requires energy. Sometimes a severe form of stress is associated with fever that should be regarded as an automated defensive action. In fact, I knew of a patient in whom the cause of her persistent fever could not be determined by standard laboratory methods. It was written off as “psychosomatic”, because of personality factors.

The idea, however, seems to me to be a reduction to absurdity based on collective ignorance of the underlying mechanism. The symptoms that we develop are caused by all the actions that make up the defensive mode and we call that the disease. For example, fever is part of the defense because it renders the attacking organism less efficient. Hence, the attacking organism is a “stressor”. Perhaps prolonged mental stress can produce fever in a metabolically abnormal brain because of causative misinterpretation by the brain.

It has long been time-honored that we bring the temperature down artificially as part of the treatment for infection, thus losing an important part of the defense. It wasn’t the flu virus that caused Reye’s syndrome, a disease that caused the death of many children. It was the aspirin given by the mothers to bring their child’s temperature down.

Energy Deficiency and Mitochondria

When you read a telegram giving you bad news, when you ride a bicycle, when you run cross country or shovel snow, we take it for granted that the energy will be forthcoming, that is if we think about it at all. Energy deficiency in the heart muscle could easily explain the “drop-dead” phenomenon occasionally experienced by elderly people in the winter when shoveling snow, usually written off as a heart attack from coronary disease that could easily be part of the event. Could that death have been prevented by analyzing the state of nutrition for that individual?

Another great discovery is that we have a separate set of genes that preside over the functions of our mitochondria. These are the organelles within each of our cells that produce the energy that enables us to function. Sick mitochondria produce sick people, because energy consumed must be met by energy synthesized. We now know that mitochondria have their own genes completely separate from the “blueprint” genes. Mitochondrial genes are passed to the children by the mother. When damaged mitochondrial genes are passed on to children, it becomes a form of maternal inheritance. An obvious question is whether the damage to genes can be caused in adult life from malnutrition or whether the damaged genes passed on to the children are invariably inherited from grandma.

Energy synthesis depends upon an exquisitely complicated set of nutrients that are derived from what we eat, so nutrition becomes the third factor. It is therefore very likely that an element of each of these factors is always involved. Yes, it is true that a genetic mistake may be the primary cause, but a lot of genetic mistakes are really risk factors that begin to produce a given disease in relationship to “stress” and “nutrition”, both of which always play a part.

We now know that the induction of the first symptoms of beriberi, a well-known vitamin deficiency disease that has dogged mankind for centuries, can be fully initiated by sunlight exposure in a person with marginal deficiency. There may be mild symptoms attributed to other “more acceptable” causes or even no symptoms of vitamin deficiency prior to sunlight exposure. In the early investigation of beriberi, the appearance of symptoms in many individuals at the same time misled the investigators who concluded that it was due to a mysterious infection. We now have reason to believe that ultraviolet light imposes a “stress” in an individual whose metabolism is marginal, thus initiating the true underlying cause.

Healing Comes Naturally If We Let It

The human body, as we all recognize, is beautifully designed and healing is a natural phenomenon built into our system. The body knows exactly what to do, but like stress factors, healing requires energy. So, it seems to make absolute sense that we cannot possibly produce healing by the use of compounds that are completely foreign to our cellular system. Shouldn’t we be using methods that assist the healing process by stimulating mitochondria to produce the necessary energy? Surely, the only possible assistance must be through the use of nutrients. At present, we know that there are well over 40 separate non-caloric nutrients that we must get from our food to maintain health and this may not be a full complement.

Feeding the Body Fuel to Heal: Of Vitamins and Minerals

I give this as a forerunner to news that I came across quite recently. I am reasonably sure that it will be known by people who love American sports. Everyone knows the name of Bernie Kosar, the great quarterback of the Cleveland Browns back in the good old days. Bernie understood the highs and lows of football. He had hundreds of concussions, broken bones and torn ligaments over 8 ½ seasons. In retirement he suffered pounding headaches, sleepless nights, anxiety and increased weight. Speech slurring made people think that he was drunk. Amazingly, his family didn’t believe that he had genuine symptoms and thought that he was merely trying to gain attention. The slurred speech was thought to be due to alcohol, the weight gain from overeating. After his retirement, apparently he spent some time in Florida and he learned there of a physician who was using intravenous vitamins to treat the kind of symptoms of which he complained. He tried it and immediately began to feel better. In fact he was so impressed that when he came north to live in Ohio he looked for a physician who could continue this treatment. He was directed to a doctor Pesek, founding holistic physician and CEO of Vital Health in Cleveland, Ohio. Dr.Pesek uses holistic superfoods and megadose vitamins to treat his patients. Kosar gets two or three intravenous infusions of vitamins a month. His headaches have decreased, his sleep is improved and he has lost 60 pounds in weight. This is loss of accumulated water in the tissues, a signature of  mitochondrial disease, not loss of fat. In fact he is so impressed that he is going to bring it to the notice of the NFL concussion settlement. He wishes that he had started it earlier. He says that “he knows of guys who are older and some who are younger than me and it goes south quickly”.

Healing the Brain

Because the methodology is “out of the box”, it is likely that a common explanation would be the so-called placebo effect. But that effect has to have a mechanism and perhaps the approach with nutrients actually stimulates this effect. What we know about brain injury is that the damage upsets the normal balance of metabolism. It causes a release of oxygen radicals, a phenomenon that can be likened to the production of sparks in a fire. The damage is cumulative, eventually giving rise to the kind of symptoms experienced by Kosar and also by Mohammed Ali, who went on to suffer from Parkinson’s disease. Neglect the early symptoms, almost always mistaken for psychosomatic disease, and the damage slowly accumulates, eventually becoming irreversible and untreatable. I suggest that this is represented as one of the many neurodegenerative diseases such as Alzheimer’s or Parkinson’s. Under the present medical model, it might easily be assumed that intravenous vitamins are a specific treatment for the effects of concussion and should be reserved for that. The point is that there are many avenues to metabolic imbalance. For example, if type I diabetes was determined by a genetic effect, why do the symptoms not appear for many years?  If genes are solely responsible, diabetes should be present at birth. The answer is that other factors come into play including malnutrition and aging. In fact, in the state of genius, it might be that even the best possible diet does not provide sufficient energy, perhaps explaining the long-term illnesses of the historical figures, Mozart and Charles Darwin, both of whom suffered lifelong from symptoms that have often been regarded by historians mostly as psychosomatic.

We Need Your Help

More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter. 

Image by PDPics from Pixabay.

This article was published originally on July 31, 2017.

Rest in peace Derrick Lonsdale, May 2024.

 

Related posts:

happy mitochondriaMitochondria Need Nutrients Food sensitivitiesThe Winnowing of the Western Diet: Reconsidering Food Sensitivities Energy medicineEnergy Medicine

You might be interested in

Hormonal Birth Control Plus Poor Diet Is a Recipe for Disaster

Published on
5933 views
birth control side effects

I am a 29 year old female who began experiencing a decline in my health at 25 years old. This was in 2020. At that point, I had been on hormonal birth control for nearly 10 years. I suspected the birth control was contributing to my ill-health but my doctor disagreed and continued to prescribe different forms to alleviate my symptoms. That did not work and only made things worse. When Depo-Provera was added, I completely crashed and have not recovered, nearly two years later.

When I first began to experience extreme fatigue, abdominal bloating, irritability, restlessness, and massive amounts of hair falling out, I went to my primary care doctor who could find no reason for it on basic bloodwork, except for a low vitamin D level (27mg/mL). They checked CBC, CMP, autoimmune markers, B12, a complete thyroid panel, Lyme titers, mono titers, and iron levels. Since everything was basically normal, my primary care doctor blamed it on my stressful job. At the time, I was working in the emergency room on the night shift. I was not getting the best sleep, and not eating that well either. I was lucky to eat one meal a day and then maybe a snack especially on my busy shifts. On my days off, I was so exhausted that I would eat maybe twice a day. My diet consisted of easy meals like grilled chicken, salads, granola bars, processed cereals, pizza, chicken nuggets, chips, bananas here and there, and overall not a lot of fruits or vegetables.

Enter Depo-Provera

Fast forward to the fall of 2021, after these symptoms persisted, my doctor decided to switch my birth control to the Depo-Provera shot. After taking this shot, havoc was wreaked on my body and brought me down to a level of non-functioning that I never knew existed. Over the next couple months and after taking only one depo shot, I began to experience debilitating symptoms of headaches, fatigue, achy joints/all over body pain that eventually progressed into episodes of heart-racing anytime I would change position. I also experienced shortness of breath, chest pain, difficulty swallowing, a complete loss of appetite, GI issues, brain fog, severely decreased ability to concentrate, severe restless leg syndrome, insomnia, and neurological symptoms so extreme it felt like my brain was “short circuiting” for lack of a better word.

One side of my body would become extremely numb, tingly, and feel weak without any clear deficits. I experienced severe muscle weakness, where it would feel like my body was doing everything it possibly could to keep me upright and breathing. It was so bad, I felt as though I couldn’t even grip my phone and just talking on the phone to family felt like I was dying. I could barely concentrate. I developed severe visual issues, a condition called visual snow syndrome, and still am dealing with it with no improvement. I also developed tinnitus and have a constant high pitched ringing in my ear. I am unable to handle any type of stress, multi-tasking, or any emotional upset without truly feeling like my body is dying from severe neurological symptoms. I became scared to leave the house alone because of these debilitating symptoms. I lost over 30 pounds from feeling so awful and a complete loss of any desire to eat. I would have to force myself to put in fluids or food.

Over the course of many months, I saw multiple neurologists, neuro-ophthalmologist, cardiologist, electrophysiologist, primary care doctor, ENT, TMJ specialist, otologist, binocular vision specialist, rheumatologist, had numerous ER visits, two hospital admissions. I even participated in vestibular/neurological physical therapy over the course of several months. I had multiple head MRIs and CTs of my head and neck, MRIs of my spine, and so much bloodwork looking for autoimmune causes. I had a colonoscopy, a camera down my nose to look at my throat, an audiogram, a sleep study, a tilt table test, an echocardiogram, a stress-echocardiogram, and they even attempted a lumbar puncture on me as well. Conditions such as blood clots, multiple sclerosis, any type of cancer or tumor, etc., were ruled out and the only thing they came up with was a diagnosis of Postural Orthostatic Tachycardia Syndrome (POTS), a suspicion for “some type of migraine variant” and a deficiency in vitamin D and phosphorus on my bloodwork.

Could This Be Thiamine Deficiency?

Fed up and worsening, I paid out of pocket to go to a natural medicine doctor who did heavy metal and mold testing on me along with hormone testing. Nothing really turned up there and so I took it upon myself to order a full vitamin and mineral panel paying over a grand out of pocket. This panel revealed that my serum thiamine was one point away from being flagged as low (8 nmol/L). I then returned to my primary care and two different neurologists to ask if a thiamine deficiency could be the problem or at least part of it, especially after my own research and the known research that birth control depletes many B vitamins. All of the doctors told me that there was no possible way I could have a thiamine deficiency since it is added to so many foods in the United States. They also told me that I could just take a B complex vitamin if I was worried. Even after I told them I was hardly eating because I felt so sick and that when I was eating it was mostly foods like processed toast, frozen chicken nuggets, cans of soup, and other things of that nature, they still dismissed the idea of thiamine deficiency.

May-Thurner Syndrome

On top of all of the debilitating POTS and neurological symptoms, throughout my time on birth control I had complained to my GYN about persistent left sided pelvic pain. It felt like my labia was swollen and at times like something was bulging into my pelvic area. In 2019, I had a CT scan of my abdomen and pelvis done due to some GI symptoms I was having. An incidental finding on it was suspicion for pelvic congestion syndrome (PCS). The report stated that I had very prominent peri-uterine vessels and a dilated left gonadal vein. I took these results to my GYN at the time who clearly stated “PCS is a fake diagnosis and you don’t need to do anything with that.” Since I was young, in my early 20s, I didn’t take it too seriously. Again as time went on, I continued to have the pain and over the years my GYN kept changing my birth control and mentioned endometriosis and small ovarian cysts as possible causes. The birth control would help a little bit for a while but then I would have irregular bleeding and the pain would always come back. It wasn’t until after I took the Depo shot and came off of the hormones that things became worse.

I began to have severe left pelvic pain that persisted for months. I had transvaginal ultrasounds every 6 to 8 weeks to monitor recurring small cysts that they swore were not the cause of my pain. I was tested for PCOS and was negative for that too. It wasn’t until the end of 2022, that I had another transvaginal ultrasound and this one read as having a hydro-salpinx. I had a new GYN at the time who referred me to get an MRI done of my pelvis. This MRI came back as also showing “likely hydro-salpinx” on the left. Since I was having such severe pain, I was referred to a GYN surgeon who said in extremely painful cases it is recommended to take out the tube and it was pretty much nonfunctional when it was as swollen as mine. I elected to proceed with the surgery, as the pain was so extreme. Funny enough, after the surgery when the pathology came back there was no hydro-salpinx and my surgeon said he did not see any endometriosis when he performed the laparoscopy. He said he believed my MRI may have been misread since he did not see any indication of hydro-salpinx during the procedure.

As if that wasn’t enough, after the procedure I had a severe neurological reaction to the scopolamine patch they put on me during the procedure. I had so much testing for this. I was even in the hospital for 5 days with what they thought was “scopolamine patch withdrawal” even though I only had the patch on for 3 days like they told me to wear it.

Fed up and still in pain, I let it go for a few more months thinking it was just “scar tissue” from the surgery or some other easy explanation. It wasn’t until my POTS doctor recommended me to wear an abdominal binder/compression device around my stomach that things worsened so much that I was forced to figure this out. I began having severe left pelvic, hip, and leg pain after wearing this device for only 3 days. I went to the ER because the pain was so bad, but they could only find a small ovarian cyst on my left ovary. They didn’t even consider doing any other work-up. I was then sent to an orthopedic to look at my hip and back to my GYN. Neither could really give an explanation for this pain. Finally enough was enough, I went to a vascular doctor on my own accord to get this PCS, which no one seemed to take seriously, looked at.

At the vascular surgeon’s office, they did a vascular scan of my pelvis and abdomen and were quickly shocked to find that my left iliac vein was almost completely compressed causing my peri-uterine vessels to get almost no blood flow. They diagnosed me with something called May-Thurner Syndrome and said that they usually only see severe cases like mine in women who have had “5 or 6 babies.” I was 28 at the time with one previous ectopic pregnancy many years ago. They quickly scheduled me to get a stent of my left iliac vein placed, as my left leg had begun swelling bigger than my right due to the limited blood flow.

On the day of surgery, my left leg was 2 inches bigger than the right and I was in severe pain. They did a venogram with internal ultrasound and were able to tell me my left iliac vein was 85% compressed. So basically, I was getting no flow through it and hardly any return through that vein up to my heart. They also informed me that the birth control was probably masking the problem but also could have been worsening it when I was on estrogen-containing birth control. They said I was extremely lucky that I did not develop a blood clot, especially when I had taken Beyaz for several years. Now, I am on blood thinners for several months post stent, while waiting to see if this helps with my POTS symptoms at all. So far, I have not seen any improvement except that my leg is no longer swollen.

Still Seeking Answers

I don’t know if thiamine deficiency could be causing my issues, but I have not received any answers other than POTS and my recently discovered May-Thurner Syndrome. I have seen so many doctors and spent so much money with no improvement in my health. This all severely worsened after I took the Depo shot. I have been unable to work for months, was bed bound for a long time, and was completely unable to eat during the worst of my symptoms. Now, I am at least able to move around more than I was and leave the house for doctor appointments, but I am still not working and I am still searching for answers. I would like to feel better and get back to some type of semi-normal life.

We Need Your Help

More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter. 

Photo by Kelly Sikkema on Unsplash.

This article was published originally on August 14, 2023.

Related posts:

UTI birth controlBirth Control and UTIs: The Insulin Connection testing for clotting disordersWhy Aren’t Women Tested for Factor V Leiden and Other Clotting Disorders? birth control brick wallBanging My Head Against the Wall: Questioning Birth Control Safety birth control pillsBirth Control Deserves Honest Discussions

You might be interested in

Notes on Folate Carriers, Anti-Folate Medications, and Thiamine Deficiency

Published on
6075 views
Folate Carriers, Anti-Folate Medications, and Thiamine Deficiency

A few years back, I wrote a paper about the anti-folate and anti-thiamine properties of a popular antibiotic called Bactrim. It is also sold under the trade names: Septra, Sulfatrim, Septrin, Apo-Sulfatrim, SMZ-TMP and cotrimoxazole. Bactrim is a formulation that combines two drugs, trimethoprim and sulfamethoxazole. Both drugs block folate, albeit via different mechanisms, but trimethoprim blocks thiamine too. The combination has a number of deleterious effects, not the least of which is the possibility for a drug-induced Wernicke’s encephalopathy.

Today, I would like take a closer look at the relationship between thiamine and folate status as it affects transporter activity. It turns out that there is a lot more to the story than simply the drug’s depletion of critical nutrients. There is an interaction at play that determines the potency of these drugs and the severity of the nutrient depletion. That is, the individual’s nutrient status before taking the drug, to a large extent, may determine its effects.

It makes sense, of course, that the individual’s nutrient status would affect drug response. Poor nutrient status in general would exacerbate any illness and increase the risk frank deficiency and drug-induced mitochondrial damage. Beyond these broad strokes, however, there wasn’t a clear mechanism that would account for why some people become so severely debilitated by certain drugs and while others do not.

With regard to anti-folate drugs, a study done over 20 years ago found that nutrient transporter trafficking and directionality may be related to thiamine status. A caveat, this was a cell culture study using murine cell lines, including leukemia cells, and extrapolation to vivo human, non-leukemia cells is necessary. More recent animal research involving the use of methotrexate in liver cancer demonstrates similar effects, although mechanisms are not discussed. High thiamine status reduces methotrexate uptake. Conversely, methotrexate induces thiamine and folate deficiency (here, here).

Returning to the cell study, thiamine concentrations before exposure to anti-folate drugs appears not only to determine how much of drug is taken up by the cell (low thiamine > more drug uptake) but also the degree to which folate and thiamine are depleted. In low thiamine states, the potency anti-folate drug like methotrexate, and I suspect other anti-folate drugs that were not tested, is magnitudes greater than with higher thiamine concentrations. What I found particularly interesting, was that this effect was mediated largely by changes in the folate transporter (RFC1), which controlled  not only the influx of folates and anti-folate drugs, but also, the efflux of thiamine pyrophosphate (TPP), the activated form of thiamine. The researchers found that when thiamine was low, more drug was taken up by the cell, while more TPP was spit out of the cell, essentially causing an intracellular deficiency of both folate and thiamine. Of note, a less active form of thiamine, thiamine monophosphate (TMP), appeared to be trafficked into the cell in exchange of the more active TPP.

Since a good portion of the population is likely low in thiamine, this means the potential damage by these drugs is significant and under-recognized. Might some of the adverse effects associated with these medications be related to either folate and/or thiamine deficiency? Possibly, which means supplementation with these nutrients may help.

We Need Your Help

More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter. 

Photo by Aaron Burden on Unsplash.

This article was published originally on March 28, 2023. 

Related posts:

TTFD and Low GlutathioneParadoxical Reactions With TTFD: The Glutathione Connection bactrim side effectsBactrim: An Anti-Folate, Anti-Thiamine, Potassium Altering Drug attack and defendCoordinating the Body’s Defense It all comes down to energyIt All Comes Down to Energy

You might be interested in

Childhood Seizures Precipitated by Thiamine Deficiency

Published on
5725 views
seizures thiamine deficiency

The seizures started for the first time with a frightened expression in my then 4 year old precious daughter’s eyes, and I thought she had seen a ghost. She held her chest, looked wide eyed, ran over to me and buried her head into my stomach where I felt her heart beating hard and fast. It lasted a few seconds and then I reassured her and on went on. She said it was like strong butterflies in her belly. It also was the morning after her lovely grandparents left after a 3-month visit back to Ireland and we were all very sad.

For approximately one year prior to this, she had been complaining of stomach aches, top and bottom, occasionally under her ribs. She had reduced appetite and a very worrying paleness. She also was very car-sick so we had to prepare for longer journeys. I had been to the ER after Christmas lunch when she had terrible stomach pain. She was checked to be ‘fine’ but I was advised to see a pediatrician to follow up.

Panic Attacks or Seizures?

Basic blood tests confirmed she was in ‘great health’, with the only thing they found in a stool test being h-pylori. So it was their opinion that she wasn’t having seizures but instead must be anxiety/panic attacks as she is a sensitive child. I was always skeptical, but in absence of any other data, we waited a long time for the referred psychologist. After 3 sessions, I realized they had no intel and were chasing the wrong dragon. I kept saying she looked somewhat unwell. The seizures were happening quite infrequently then, perhaps one episode a month, or every 2-3 weeks, but then when she started kindergarten they ramped up a little more frequently. She would stop, look to be catching her breath, hand twisting for a few seconds and then it was over. I thought it was a reaction to the food they fed her there that we didn’t have at home, or a recent childhood vaccination or that she hated being away from me there. I also noticed she reacted with bad behavior and potential episodes after certain foods- e.g. ice cream especially and any food dyes/flavors. So our already healthy diet went up a notch to exclude these. I also did gluten and dairy free on advice from naturopaths. It was strict and sad.

Then these episodes changed to resemble a seizure more directly, not a panic attack. I got rid of the useless pediatrician who was actively gaslighting me to try to minimize the symptoms or their own incompetence and I demanded to see a neurologist. It was again a very long waiting game. When the day came, we were very nervous but were looking forward to some potential answers. He was a neurologist at a prominent Children’s Hospital, so I had high expectations. I still had many questions and areas to workshop but after he ran through my extensive notes and a video I took, he said ”let me stop you, She has epilepsy and ‘NOTHING YOU DO WILL EVER MAKE A DIFFERENCE. She will need medication for life and if that fails an operation”. This was also via video link, as it was during a Covid lockdown. No physical examination and a script sent in the mail. I accepted these, as I know you don’t refuse unless you want trouble, but my intention was to never band-aid or experiment, especially not with a young child and my family’s history of sensitivity to medication. Thank god he lied so blatantly when he said ”there’s no side effects from the anti-seizure meds” to know we weren’t dealing with the truth or someone who could be trusted.

We did another two MRIs, but they were clear. They wanted a third with dye contrast but I refused that and as I learned more about her case, know why I felt so strongly about that.

A Parade of Doctors

We embarked on the alternative/functional medicine pathway, as that is something I am familiar with. I didn’t realize how challenging it was going to be. We went from one to the other. I was constantly seeking experts who possibly knew more than the last. I needed help to decode this horror. I know a healthy child doesn’t get a whisper of issues that then progress to a scream over years for no reason.

With each new practitioner, we did another test. This included blood tests, stool test, hair tests, OAT test, Pyrrole and extensive Genetic testing. She was found to have higher copper ceruloplasmin to be treated simply with zinc, which was always met with a seizure so we stopped that. She had high vitamin D and B12, but another test found that potentially wasn’t a true representation. It can be in the blood reading but not necessarily in her cell. This is where you really throw your hands-up and say what chance do we have if some test results can also be falsely represented!!!!!

The genetic testing provided the best clue that we weren’t dealing with an easy case- she had heterozygous compound MTHFR, and many other compromising genes that are not ideal on many pathways, especially detox. This also got me remembering how I haven’t felt optimal for years. I put it down to extreme stress with my daughter. A huge thing I always wanted to understand was why I was so incredibly sick with Hyperemesis Gravidarum the entire pregnancy with her. I have always believed this had to have impacted her somewhere but could never nail down a connection.

After 5 naturopaths and numerous consults from other medical professionals, listening to one bogus diet restriction after the next, many different versions of expensive supplements that basically all triggered her. Nothing was working. She was having seizures weekly or more particularly is she was sick or overly stressed. The closest theory I could deduce of was a type of MCAS or histamine intolerance and the symptoms were:

  • Crying out prior
  • Frequently occurring in sleep waking her bolt upright
  • Hyperventilation/can’t get air
  • Big scared eyes
  • Drooling, disorientated
  • Body shaking, head was twisting hard to the side like dystonia, arms curled, torso completely contorted.

This would last for about 30 sec-1 min. The horror of witnessing this is imprinted on my soul forever. She began to lose balance so we would have to grab and hold her and I would blow hard in her face to try to get it to finish. It started to become dangerous if we weren’t around to catch her.

I also simultaneously worked back one item at a time to try to fix every variable I could, including environmental. There was a mold spot in our house in the room she slept in the bathroom. It took a long time to get repaired, I pondered about that exposure and if the builder actually fixed the leak properly. Our awful neighbor had smoky barbeques numerous times a week on the fence-line using building offcut wood. The smoke permeated our house. We sold our house to see if that made a difference and moved to the country with my parents’ house in the green clean air.

Thiamine and Riboflavin Deficiencies With Genetic Underpinnings

I finally found a practitioner trained in epigenetics with a naturopath background as I wanted someone like Ben Lynch. His YouTube videos were the only things that made sense to break down a complex health issue. She was a blessing and truly eclipsed the level of detail of knowledge (and empathy) by all others. She looked at the OAT test (shown to 5 people previously) and saw immediately she had very high lactic acid and some other markers indicating thiamine deficiency, critically followed by a riboflavin (B2) deficiency. She advised to not give a B complex and work through one at a time.

When we tried to treat this with thiamine and a B2 capsule. I am sure she had a paradoxical reaction as she had 8 seizures in the night. It was horrifying. I wanted to abort this plan like so many other failed attempts, as I never prolong anything that’s not showing positive traction, but something told me to break it down and do one step at a time. I went back into her genetics myself and looked at the thiamine related genes. She had homozygous defects in a key thiamine transporter (SLC19A2) and an enzyme (thiamine pyrophosphokinase – TPK1) that turns free thiamine into its bioactive form thiamine pyrophosphate. She also had SNPs in several other key thiamine genes, in addition to SNPs in several other mitochondrial genes.

I also came across and watched Elliot Overton’s Thiamine videos on YouTube and how to correctly dose-up. I also read many insightful articles on the Hormones Matter website. I tried again with low dose of b1 (about 5mg), some magnesium and potassium-coconut water. The seizures, in the midst of a horrible flare, stopped immediately and didn’t return for over 2 months. I dosed twice a day and worked up to 50mg of thiamine in total, which is where she is currently. She also got much better color in her face. It truly felt like a miracle!

What Else Are We Missing?

The miracle, however, ended and the seizures have been creeping back in and I’m not sure why. They seem not quite as severe in presentation, however they still occur about once a week to every 2 weeks. I need to understand why and how to help her as my intuition screams at me to find the answer, and quick! She is now 8 years old and I am struggling to comprehend any more of her childhood being stolen.

We Need Your Help

More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, and like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter. 

Photo by Noah Silliman on Unsplash

This article was published originally on September 11, 2023. 

Related posts:

new thiamine bookThiamine Deficiency Gaining Recognition: New Book It all comes down to energyIt All Comes Down to Energy poor diet, covid, thiamine deficiencyPoor Diet, COVID, and Thiamine Deficiency: A Perfect Storm thiamine deficiency - dry beriberi legsDiet and Medication Induced Thiamine Deficiency – Dry Beriberi

You might be interested in

Thiamine and Heart Function

Published on
12059 views
thiamine heart failure

Since there are many posts on this website about thiamine, it is entirely possible that some readers will regard it as being an obsession of the author’s. I can well imagine a reader believing that an explanation for so many different conditions is the fruit of such an obsession. I will counter this by stating that a paper in a prestigious medical journal reported 696 separate papers in which over 250 human diseases had been treated with this vitamin as long ago as 1962. I think that the explanation for recognizing the place of thiamine in human metabolism is a professional lifetime of clinical observation, resulting in the conclusion that disease is a representation of cellular energy deficiency. To use a simple analogy, spark plugs used in older cars were necessary to ignite the gasoline. Loss of a single plug made the engine run badly and if they were all affected, the car became completely useless. I have used the analogy frequently: thiamine deficiency is like an inefficient spark plug in the engine of a car.

Heart Disease and Beriberi: Case Stories

Heart disease has been central in beriberi, the classic thiamine deficiency disease, for centuries and the painstaking efforts that uncovered thiamine deficiency as the cause is unfortunately a little-known saga of human effort. Modern physicians have been completely convinced that no vitamin deficiencies exist in America, because of vitamin enrichment by the food industry. So is there any evidence that physicians are beginning to wonder whether thiamine plays a part in modern heart disease? This post is designed to show that there is indeed an awakening that could make a big difference to the role of cardiologists in treating heart disease.

Before I go to some medical literature, I want to describe a personal experience that occurred many years ago because it illustrates the incredible psychological resistance of the medical community to a vitamin deficiency. I was a pediatrician at Cleveland Clinic at the time. In the medical hierarchy, a pediatrician is regarded as being largely ignorant concerning disease in adults. A 67 year old anesthesiologist at a Columbus hospital reported to his colleagues with the symptoms of heart failure. He was subjected to heart catheterization and found to be perfectly normal in that respect.

His son was in medical school and studying his father’s case, he came to the conclusion that he had beriberi. For some reason unknown to me, the patient was referred to cardiologists at the Cleveland Clinic. Because my colleagues knew of my particular interest in thiamine, I was asked to see the patient. The story he gave me made the son’s diagnosis virtually a guarantee. Each day, as he went to get into his car in the morning, he would get the “dry heaves” in the garage. He would drive to the hospital where he gave anesthesia to as many as 10 patients. He would then go to the pediatric ward and cut himself a large piece of chocolate cake. When he got home he was too tired to eat dinner and would go to bed. I gave my reading of the case in the patient’s record and had no further contact. He was returned to the Columbus cardiologists and although I believe that he continued to receive thiamine, he died. I never received any information concerning his further care or whether the cardiologists really believed that this was beriberi. One can only conclude that the state of his heart was precarious and the history of thiamine treatment in beriberi had already showed us that there was a “tipping point” beyond which there was no response to thiamine treatment. Whether the cardiologists were aware of this or not is unknown. It is possible that his failure to respond may well have caused them to reject the diagnosis. What really impressed me was the extraordinary resistance to this diagnosis.

I am reminded of another case in my experience. There was a lady pathologist at Cleveland Clinic who was known to be brilliant. I visited her in the Department of Pathology for a reading on one of my patients. She told me that she was so utterly fatigued that a few days previously she had turned around on her way to work and gone home. I found to my amazement that she had a chocolate box in every room in her house and would take a chocolate at random as she went around her house. Without further advice I simply suggested to her to discontinue that practice and to take a supplement of thiamine, whereupon she recovered quickly. Fatigue is a symptom arising in the brain that notifies its owner of energy deficiency and undue fatigue is a logical result in beriberi.

Recognizing Vitamin Deficiencies in Disease

The problem with thiamine deficiency is that a physician has to change his attitude radically towards the cause of disease. This is because the underlying mechanism is derived from cellular lack of energy. If this is not perceived, a physician can be puzzled by a combination of heart and nervous system disease in a single patient. In the present medical model, he believes that he is confronted with two separate conditions.

Because of this resistance, in 1982 I joined a private practice specializing in nutrient-based medicine and began seeing adults as well as children. I joined a group that came to be known as the American College for Advancement in Medicine (ACAM). This relatively small group of physicians had all come to the same conclusion: nutrient-based therapy is, or should be, the methodology of the future. Many of these physicians were practicing alongside their orthodox colleagues in their local hospitals. One of my

ACAM friends told me the following story. He had a patient in the hospital with a pneumonia caused by antibiotic resistant infection. Together with the antibiotic treatment, he had given the patient intravenous vitamin C and she recovered. A patient in the next bed was under another physician with the same pneumonia and my friend approached him, suggesting that he tried the use of the same treatment. He was told to mind his own business and the patient subsequently died. I know of no better example of resistance and rejection of a principle that has yet to reach full acceptance in American medicine. As long as the psychological resistance to vitamin deficiency remains, it is seldom considered. I am happy to say that this resistance is beginning to break down as we shall see by looking at some of the recent medical literature. Not only that, the therapeutic use of vitamins in pharmacological doses it gradually being recognized for its therapeutic value.

Recent Reports of Thiamine’s Role in Clinical Care

Hear what a physician wrote as recently as 2015. The title of the paper is “Thiamine in Clinical Practice” and the author notes that the active form of the vitamin plays a role in nerve structure and function as well as brain and heart metabolism. Unexplained heart and kidney failure, alcoholism, starvation, vomiting in pregnancy or intestinal surgery “may increase the risk for thiamine deficiency”. Understanding the role of thiamine as a potential therapeutic agent for diabetes, some inborn errors of metabolism and neurodegenerative diseases all warrant further research. Surely, this is an indictment of our present approach by merely trying to control symptoms instead of addressing the primary cause.

A group of Canadian physicians stated that “the management of heart failure represents a significant challenge for both patients as well as the health care system in industrialized countries”. The abstract of their paper notes that thiamine is required in the energy-producing reactions that fuel heart contraction. Previous studies have reported a wide range in the prevalence of thiamine deficiency in patients with heart failure and the impact of its supplementation in patients is inconclusive. Of course, Dr. Marrs and I are appalled because such treatment is not only easy, it is completely non-toxic and therefore safe. If there is clinical evidence, why not use a non-toxic agent? However, the psychological restraints of being accused of being a charlatan are very real and can expose a physician to colleague ridicule.

Another paper reported that a total of 20 articles were reviewed and summarized. Recent evidence has indicated that supplementation with thiamine in heart failure patients has the potential to improve heart contractions. These authors recommend that this simple therapy should be tested in large-scale randomized clinical trials to further determine the effects of thiamine in heart failure patients. Diuretic treatment for heart failure may lead to an increased urinary thiamine excretion and in the long-term thiamine deficiency, further compromising heart function. Nine patients with diuretic treatment for chronic heart failure were studied with thiamine supplementation, producing beneficial effects on cardiac function. The authors state that subclinical thiamine deficiency is probably an underestimated issue in heart failure patients. It has even been shown that thiamine pyrophosphate, the active form of the vitamin, prevents the toxic heart injury caused by the cancer treating agent cisplatin. Dietary thiamine that has not been activated by the body did not prevent this.

It has been known for some time that thiamine in the diet has to be absorbed into the body by means of a protein known as a transporter of which there are quite a few. These transporters are under genetic control and absence of one or more of them will make it difficult for a given person to obtain an adequate amount of thiamine from diet into the part of the body where that thiamine transporter is active. A new thiamine transporter has been discovered whose genetic variants have an effect on blood pressure.

Although this post is about heart disease, I want to end by pointing out that vitamin treatment goes well beyond the consideration of just heart disease. Several years ago I received a letter from an aging physician who had specialized in OB/GYN. This letter was so poignant that I am repeating some of this letter:

I am writing to you, because I have found another mortal being who is particularly interested in the biological activities of thiamine. I had previously thought that I was nearly the lone believer in the benevolent effects of thiamine particularly for the treatment and prophylaxis of the toxemias of pregnancy and its many associated problems. I had even written to the chief of the Cleveland Clinic OB-GYN about the “miracles” I was performing and offered to work with him in further development of the concepts.

It was enclosed in a copy of a book by John B Irwin, M.D., the author of the letter.

We Need Your Help

More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter. 

Image credit: Daniel Capilla, CC BY-SA 4.0, via Wikimedia Commons.

Mural que presenta un corazón en su forma anatómica sobre un fondo de rombos y triángulos blancos, negros y azules, a la altura del número 2 de la calle Alonso Benítez, barrio de Lagunillas, Málaga, España.

This article was published originally on May 30, 2018. 

Rest in peace Dr. Lonsdale. 

Related posts:

mother daughter B vitamin deficienciesFrom Mother to Daughter: The Legacy of Undiagnosed Vitamin Deficiencies Thiamine deficiency, hyperglycemia gateway to diseaseHyperglycemia and Low Thiamine: Gateways to Modern Disease Health requires energyHealth Requires Energy. Energy Requires Nutrients. beriberi thiamine deficiencyBeriberi is Alive and Well in America

You might be interested in

1 2 3 4 5 6 … 13