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Celiac.com 07/01/2021 - We get a lot of questions from celiac community members wondering about various aspects of celiac disease. One question we see a lot is about how genetic makeup influences the odds of developing celiac disease. Specifically, what are the odds of developing celiac disease based on HLA-DQA/DQB genotypes? Here's a breakdown of the odds by genotype combination. The odds of developing celiac disease based on HLA-DQA/DQB genotypes is as follows: DQ2+DQ8 1:7 (14.3%) DQ2+DQ2 OR DQ2 Homozygous DQB1*02 1:10 (10%) DQ8+DQ8 1:12 (8.42%) DQ8+DQ8*02 1:24 (4.2%) Homozygous DQB1*02 1:26 (3.8%) DQ2 only 1:35 (2.9%) DQ8 only 1:89 (1.1%) General Population - Genotypes unknown 1:100 (1%) ½ DQ2*DQB1*02 1:210 (0.5%) ½ DQ2*DQA1*05 1:842 (0.05%) No HLA-DQA/DQB susceptible alleles 1:2518 (0.04%) Testing for celiac disease should be done using FDA-approved HLA test kits. HLA-DQA/DQB genotyping typically provides detection of DQ2 (DQA1*0501, DQA1*0505, and DQB1*0201/*0202) and DQ8 (DQB1*0302) For example: HLA-DQ2(DQA1*05/DQB1*02) Positive or Negative HLA-DQ8(DQA1*03/DQB1*0302) Positive or Negative A testing report typically includes DQ2, DQ8, half DQ2, homozygosity for DQB1*02, and complete DQA and DQB genotypes, along with an easy-to-interpret risk assessment. -
Celiac.com 09/24/2022 - When an individual is diagnosed with celiac disease, every family member is affected. Suddenly, the diagnosing physician or the helpful support group informs the new celiac that first and second degree relatives must be regularly tested for celiac disease. They learn that it is necessary because celiac disease is a genetic condition and could appear at any time in other family members. Antibody vs. Genetic Testing The blood tests that celiacs are more familiar with are the antibody tests. These tests, such as the tissue transglutaminase test, or the antiendomysial antibody test, measure the immune response to gluten that occurs at a point in time (think of it as a photograph). These are important tests because they characterize the extent to which the immune system is responding to a specific antibody created in response to gluten. More celiacs and their families are learning about genetic testing, which is also a blood test. Unlike antibody testing, the HLA gene testing for celiac disease measures the presence or absence of genetic material that is found on the surface of cells. Celiac disease is associated with the presence of HLA DQ2 and HLA DQ8. Genetics of Celiac Disease When the genetic predisposition for celiac disease was detected (on Chromosome 6) researchers noted that the genes were a necessary but not sufficient condition for the disease to develop. In fact, up to one third of the U.S. population has the genes for celiac disease, but it is thought that only 1-4% will actually develop the disease at some point during their lifetimes. This means that people with DQ2 or DQ8 can develop celiac disease, but aren’t destined to develop it. This is most evident in the case of identical twins, where only one of the twins is affected by celiac disease. Despite the fact that the twins have identical genes, the unaffected twin only has a 70% chance of developing the condition. How can this happen? Researchers and medical professionals use the term “environment” to refer to lifestyle factors, diet, or medical history that affect an individual’s chances of developing a disease. It is thought that environmental factors such as the duration of breast feeding and the presence of other autoimmune disorders can impact the development of celiac disease. Environmental factors can have a protective effect or a promotional effect with regard to the development of a genetic disease. Medical Knowledge and Celiac Genetics At the International Celiac Conference in Paris last summer, numerous presentations were made by researchers looking at the role that of other genes that could modify, protect, or directly lead to the development of celiac disease. Most of them, however, failed to establish a direct connection between a gene and the disease process. Since the Paris conference, however, researchers have published work that looks at subsets of HLA DQ2 and HLA DQ8 and have determined that some combinations of these subsets lead to a greater or lesser risk of developing celiac disease (called gene dosing). In addition, it is thought that a certain genetic typing (within DQ2 and DQ8) can identify people who will develop celiac disease later in life. Gene Testing Considerations The gene test for celiac disease is a blood test that looks to measure HLA DQ2 and HLA DQ8 positivity on the surface of cells. It does not diagnose celiac disease. It places an individual into an “at-risk” group for celiac disease, which indicates the individual should be closely monitored with antibody testing in the future. Celiac centers across the United States have different approaches towards the use of genetic testing with patients and families concerned about celiac disease. Be sure to talk to your doctor about his/her perspective on genetic testing for celiac disease. Rule Out Celiac Disease Given that two-thirds of the U.S. population does not have DQ2 or DQ8, which are necessary for celiac disease to occur, the gene test can “rule out” with a very high degree of certainty that person’s potential for becoming celiac (95% of celiacs are DQ2 positive, 5% are DQ8 positive). In families where the potential celiacs are children, many parents feel that genetic testing offers them additional information—the ability to know which of their children to monitor more closely. On the Diet before Diagnosis In individuals with symptoms who have been on the gluten-free diet for a significant period of time, the gene test is often the only way to determine if symptoms could possibly be related to celiac disease. For a person who faces this situation, a negative gene test would indicate that symptoms are not likely to be celiac disease. A positive gene test, however, does not diagnose the disease but increases the likelihood that it is present. The Blame Game Genetic testing provides very useful information for clinicians and families facing celiac disease. However, family members may joke about or comment that testing will determine whose side of the family is at fault for the presence of celiac disease. Genetic testing of any kind affects everyone in the family (close and distant relatives). Interpersonal relationships and potential problems should at least be considered before testing. In considering the genetic test, families have to realistically assess what they will do with the information if and when members test positive. If the family is planning to have a gluten-free household anyway, genetic testing will not offer information that will change the health outcome of each family member. In this circumstance, the family is probably not a good candidate for genetic testing. The Cost of Genetic Testing Genetic testing can be very expensive, and this can vary by geography and the type of medical center where the testing is done. Costs include the cost of the actual test, the hospital laboratory fees, equipment/supplies, and processing. Ask your doctor’s office about the cost of the test before you have it done. In addition, you should take steps to insure that your insurance company will cover the test before the blood is drawn, unless you plan to pay for the test yourself. -
Celiac.com 11/26/2021 - Celiac disease has a prevalence of 1/100. Between 90-99% of celiacs are HLA DQ2 and/or DQ8 positive. Every individual has two DQ serotypes. Because the molecular HLA nomenclature can be confusing DQ serotyping is a method for simplifying the results. There are four major types and 5 subtypes: HLA DQ1, DQ2, DQ3 and DQ4; DQ1 has two subtypes; DQ5 and DQ6 whereas DQ3 has three subtypes; DQ7, DQ8 and DQ9. Each individual has two copies of HLA DQ. One DQ type is inherited from each parent. Though 35-45% of individuals of Northern European ancestry are DQ2 and/or DQ8 positive only 1% has classic celiac disease as defined by abnormal blood tests and small intestinal biopsies. Several autoimmune conditions also occur more frequently in DQ2 and DQ8 positive individuals. There is accumulating scientific evidence that many individuals are gluten sensitive and respond to a gluten free diet though they have normal blood tests and/or normal intestinal biopsies (fail to meet strict criteria for celiac disease). This is commonly being referred to as non-Celiac gluten sensitivity (NCGS). Many individuals who have NCGS are relatives of confirmed celiacs and were previously referred to as latent celiacs. Electron microscopy and immunohistochemistry studies of individuals with normal biopsies but suspected of or at risk (1st degree relatives of celiacs) have revealed ultrastructural abnormalities of the intestine and those who chose a gluten free diet usually responded and many who did not ultimately developed abnormal biopsies on long term follow-up. Seronegative celiac has also been recognized. That is, blood tests are negative, but the biopsy reveals classic abnormalities of celiac and the individual responds to a gluten free diet. Fecal antibody testing for gliadin (AG) and tissue transglutaminase (tTG) by Enterolab in Dallas has revealed elevations in 100% of celiacs tested and up to 60% of symptomatic individuals without Celiac disease (NCGS) even if not DQ2 or DQ8 positive. (Fine, K unpublished data). The only DQ pattern he found not associated with gluten sensitivity is DQ4/DQ4, a pattern typically found in non-Caucasians who are known to have a low prevalence of Celiac disease. Testing for DQ2/DQ8 has been suggested as a way to exclude celiac disease. That is, if you are negative for DQ2 and DQ8, then you are very unlikely to have celiac disease. However, well documented cases of celiac disease and Dermatitis Herpetiformis (DH) have been confirmed in DQ2 and DQ8 negative individuals. Moreover, we now have the clinical experience that other DQ patterns predispose to gluten sensitivity because these individuals frequently have elevated fecal antibodies to AG or tTG and respond to a gluten free diet. Why some people develop celiac disease or become sensitive to gluten is not well understood. Risk factors include onset of puberty, pregnancy, stress, trauma or injury, surgery, viral or bacterial infections including those of the gut, medication-induced gut injury or toxicity (e.g. NSAIDs), immune suppression or autoimmune diseases, and antibiotic use resulting in altered gut flora (dysbiosis). The severity of the sensitivity is related to the DQ type, pre-existing intestinal injury, degree of exposure to gluten (how frequent and large a gluten load an individual is exposed to), and immune status. Once initiated, gluten sensitivity tends to be life-long. True celiac disease requires life-long, complete gluten avoidance to prevent serious complications, cancers, and early death. Serotypes can be determined from blood or buccal mucosal cells obtained by oral swab from several commercial labs including Prometheus, Labcorp, Quest, The Laboratories at Bonfils, and Enterolabs. Fecal IgA anti-gliadin and IgA tissue transglutaminase antibody testing is only available commercially in the U.S. through Enterolabs. The fecal AG and tTG testing may be helpful to those with normal blood tests for celiac and/or a normal small bowel biopsy but suspected of being gluten sensitive. Though the fecal antibody results are not widely accepted by many “celiac experts” numerous testimonials of individuals testing positive only on fecal tests who have responded to a gluten free diet can be found in support groups, web postings, personal communication from Dr. Fine, and this physician’s clinical experience. References: Abrams et.al. Seronegative celiac disease:increased prevalence with lesser degrees of villous atrophy. Dig Dis Sci 2004;49:546-550. Alaedini A. and Green P.H.R. Narrative Review: Celiac Disease: Understanding a Complex Autoimmune Disorder. Ann Intern Med. 2005;142:289-298. Arranz et. al. Jejunal fluid antibodies and mucosal gamma/delta IEL in latent and potential coeliac disease. Adv Exp Med Biol. 1995; 371B:1345-1348. Dewar D. and Ciclitira P. Clinical Features and Diagnosis of Celiac Disease. Gastroenterology 2005;128:S19. Kappler et.al. Detection of secretory IgA antibodies against gliadin and human tissue transglutaminase in stool to screen for coeliac disease in children:validation study. BMJ 2006; 332:213-214. Kaukinen et.al. HLA-DQ Typing in the Diagnosis of Celiac Disease. Am J Gastroenterol. 2002;97(3):695-699. Fine KD and Rostami K. Don’t throw the baby out with the bath water. BMJ February 13, 2006 rapid response editorial. Fine K. Early diagnosis of gluten sensitivity before the villi are gone. Transcript of presentation to Greater Louisville Celiac Support Group, June 2003. Picarelli et.al. Antiendomysial antibody detection in fecal supernatants: in vivo proof that small bowel mucosa is the site of antiendomysial antibody production. Am J Gastroenterol. 2002 Jan;97(1):95-98. Sbartati A. et.al. Gluten sensitivity and “normal” histology: is the intestinal mucosa really normal? Dig Liver Dis 2003;35:768-773. Sollid L. and Lie B. Celiac Disease Genetics:Current Concepts and Practical Applications. Clinical Gastroenterology and Hepatology 2005;3:843-851. WGO-OMGE Practice Guideline Celiac Disease. World Gastroenterology News. 2005;10(2):supplement 1-8. -
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Celiac.com 11/01/2021 - Globally, there are major regional differences in rates and instances of celiac disease that cannot be explained by HLA genetics alone. To date, more than forty genetic sites outside of the HLA region have been connected with celiac disease. A team of researchers recently set out to investigate the roles of these non-HLA genes in the development of tissue transglutaminase autoantibodies (tTGA) and celiac disease using a large international prospective cohort study. The research team included Ashok Sharma, Xiang Liu, David Hadley, William Hagopian, Edwin Liu, Wei-Min Chen, Suna Onengut-Gumuscu, Ville Simell, Marian Rewers, Anette-G. Ziegler, Åke Lernmark, Olli Simell, Jorma Toppari, Jeffrey P. Krischer, Beena Akolkar, Stephen S. Rich, Daniel Agardh, Jin-Xiong She, and TEDDY Study Group. The team conducted specific HLA genotype screening on nearly 425,000 newborns from the US and European general populations, and first-degree relatives with type 1 diabetes. About 21,500 carried 1 of the 9 HLA genotypes tied to increased risk for type 1 diabetes and celiac disease. The team then followed nearly 8,700 of the children in a 15 year prospective follow-up study. They used the the Illumina ImmunoChip to conduct genotype analyses on just over 6,000 children, and used radio-ligand binding assays to measure tTGA in serum samples. They made diagnoses of celiac disease based on persistent detection of tTGA and biopsy analysis. They used Cox proportional hazards ratios to analyze the data. Their analyses of time to celiac disease showed 54 single-nucleotide polymorphisms (SNPs) in the TAGAP, IL18R1, RGS21, PLEK, and CCR9 genes that are connected with celiac disease. Outside of regions previously associated with celiac disease, the team found 10 SNPs in 8 regions that are potentially associated with celiac disease. The SNP rs117128341, near PKIA, and the SNP rs117139146,near PFKFB3 both reached the genome-wide association threshold in subjects from Sweden. The team's analyses of time to detection of tTGA showed twenty-nine SNPs in the CTLA4, LPP regions previously connected with celiac disease, along with six SNPs in five regions not previously connected with celiac disease. The data show that non-HLA genes are play a role in tTGA development, and demonstrate celiac disease development in five non-HLA regions previously associated with the disease, and eight regions not previously associated with celiac disease. Read more at PLoS One. 2016; 11(3): e0152476. The researchers in this study are variously affiliated with the Center for Biotechnology and Genomic Medicine, Georgia Regents University in Augusta, Georgia; the Pediatric Epidemiology Center, Department of Pediatrics, University of South Florida, Tampa, Florida; the Division of Population Health Sciences and Education, St George's University of London, London, United Kingdom; the Pacific Northwest Diabetes Research Institute, Seattle, WA, United States of America; the Digestive Health Institute, Children’s Hospital Colorado, University of Colorado Denver, Aurora, CO, United States of America; the Center for Public Health Genomics, University of Virginia, Charlottesville, VA, United States of America; the Department of Pediatrics, University of Turku, Turku, Finland; the Barbara Davis Center for Childhood Diabetes, University of Colorado Denver, Aurora, CO, United States of America; the Institute of Diabetes Research, Helmholtz Zentrum München, and Klinikum rechts der Isar, Technische Universität München, and Forschergruppe Diabetes e.V., Munich-Neuherberg, Germany; the Department of Clinical Sciences, Lund University/CRC, Malmö, Sweden; the National Institutes of Diabetes and Digestive and Kidney Disorders, National Institutes of Health, Bethesda, MD, United States of America; the Diabetes and Celiac Disease Unit, Lund University, Malmo, Sweden; the National Taiwan University, TAIWAN -
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Celiac.com 10/18/2021 - Researchers and clinicians have promoted family screening as a way to reduce the significant under-diagnosis of celiac disease. However, good data for calculating the exact risk of the disease in relatives, and the effects of individual patient- and relative-related factors, remains scarce. A team of researchers recently set out to investigate the individual risk of celiac disease among relatives of celiac patients. The research team included Saana Paavola, Katri Lindfors, Laura Kivelä, Juliana Cerqueira, Heini Huhtala, Päivi Saavalainen, Riku Tauschi, Katri Kaukinen, and Kalle Kurppa. They are variously affiliated with the Faculty of Medicine and Health Technology at the University of Tampere and Tampere University Hospital in Tampere, Finland; the Faculty of Social Sciences at the University of Tampere in Tampere, Finland; the Translational Immunology Research Program, and Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland; and the University Consortium of Seinäjoki, Seinäjoki, Finland. The team assessed nearly three-thousand relatives of 624 index patients for evidence of prior celiac disease, or else screened for the disease. For each subject, the team was able to determine the celiac-associated human leucocyte antigen (HLA) genotype. They then used logistic regression to assess the connection between individual factors and new screening positivity. They found 229 previously diagnosed non-index relatives with celiac disease and 2,714 non-affected (2,067 first-degree, 647 more distant) relatives. Of these 2,714 relatives, 129 (nearly 5%) screened positive, with 5.1% of first-degree, 3.6% of second-degree, and 3.5% of more distant relatives. The combined rate of the previously diagnosed and now detected cases in relatives was just over 12%, and was evenly divided at about 6% for both clinically detected and screen-detected. Univariate analysis showed the main risk factors associated with screening positivity to be: under age 18 years at diagnosis, age 41–60 years, being a sibling, and having the high-risk genotype (3.22, 2.01–5.15 DQ2.5/2.5 or DQ2.5/2.2 vs other risk alleles) in relatives. Multivariable analysis showed that only high-risk HLA remained significant. From this study, the team concludes that unrecognized celiac disease is common for at-risk relatives, and also in relatives beyond first-degree, even where active case-finding prevails. By far, the most important predictor for screening positivity was the presence of the high-risk HLA genotype: 3.22, 2.01–5.15 DQ2.5/2.5 or DQ2.5/2.2. Read more in Aliment Pharmacol Ther. 2021;54(6):805-813. -
Celiac.com 08/02/2021 - Researchers currently know very little about the causative molecular pathways underlying the development of celiac disease. A team of researchers recently set out to discover new aspects of celiac disease formation and development. To uncover new aspects of disease development, their team used microarrays to measure changes in gene expression of duodenal biopsies. The team used cDNA microarrays representing 19,200 genes to compare gene expression profiles of duodenal biopsies from 15 celiac disease patients with Marsh III villous atrophy, along with seven control subjects with normal biopsies (Marsh 0). They also looked at the specific effect of gluten by comparing the expression profiles of Marsh III lesions of seven patients exposed to gluten with four patients on a gluten free diet. The lesions of Marsh III celiacs versus Marsh 0 control subjects showed that expression levels of 109 genes differed substantially between the two groups. Many of these genes play roles in proliferation and differentiation pathways, and could be important for proper gut villi development. Changes in these pathways could result in the classic hyperplasia and villous atrophy seen in celiac disease. The team's comparison patients on a gluten-free diet with those exposed to gluten showed another 120 differentially expressed genes, which could strengthen their observation of increased cell proliferation in the presence of gluten. The team's findings indicate the role of new candidate genes in the development of celiac disease. Based on their results, they hypothesize that villous atrophy in celiac disease patients arises when cells fail to differentiate properly. The new candidate genes are involved in pathways not previously implicated in celiac disease development and they may be strong targets for new celiac treatments and therapies. These findings could open new doors for better understanding celiac disease, and lead to new approaches to the study, diagnosis, and treatment of this chronic inflammatory condition. Read more in Gut. 2004 Jul; 53(7): 944–951. The research team included Diosdado, M C Wapenaar, L Franke, K J Duran, M J Goerres, M Hadithi, J B A Crusius, J W R Meijer, D J Duggan, C J J Mulder, F C P Holstege, and C Wijmenga. They are variously affiliated with the Complex Genetics Group, Department of Biomedical Genetics, University Medical Centre, Utrecht, the Netherlands; the Complex Genetics Group, and Genomics Laboratory, Department of Biomedical Genetics, University Medical Centre, Utrecht, the Netherlands; the Department of Gastroenterology and Hepatology, Rijnstate Hospital, Arnhem, the Netherlands; the Department of Gastroenterology, Free University Medical Centre, Amsterdam, the Netherlands; the Laboratory of Gastrointestinal Immunogenetics, Free University Medical Centre, Amsterdam, the Netherlands; the Department of Pathology, Rijnstate Hospital, Arnhem, the Netherlands; the National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, USA; and the Genomics Laboratory, Department of Physiological Chemistry, University Medical Centre, Utrecht, the Netherlands. -
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Genetics Nutrition and Stress the Threeway Model of How Gluten Triggers an Immune Reaction in Severely Malnourished IE Vitamin Deficient Individuals consuming a High Calorie Diet This blog post is WTL again....I tried breaking it into to two Posterboy Blog posts but decided to go ahead.... And post it instead as one due to other things IRL that are taking up most of my time these days..... So thanks in advance to every one who actually completes it! I truly believe it will help everyone who reads it and UNDERSTANDS! This Posterboy blog post is for everyone who got lost in the “Forest of Data” and never found their way out! As I am fond of saying “To Educate is to truly free!” Where there is a free exchange of knowledge there is health and peace for one’s soul and body! The journey of a thousand miles begins with the first step….that step back to health for me was my seemingly rare and not well understood Celiac disease diagnosis… I then began my journey….to learn at least what the doctor’s knew about this diagnosis….and exceed it if I could… But I got lost in the forest of data….for years…going around in circles…or so it seemed at the time… See my first attempt to hack/machete my way out of this sad forest (of illness) I was in… https://www.celiac.com/celiac-disease/a-differential-diagnosis-how-pellagra-can-be-confused-with-celiac-disease-r3989/ But I soon learned to spot clues as I read more and more studies….trends, patterns…in the data begin to emerge… one tree (study) at a time…I was able to blaze a trail back out of the forest… I can honestly say I am out of the forest now….and by blazing this trail….I hope I have left enough markers (IE posterboy blog posts/articles etc.) to help the next person out of this forest of symptom’s….. I had over focused on every shiny thing I found (individual Vitamin Deficiency one tree at a time)…. I begin to identify each Vitamin (tree of health) in this vast forest… I had settled on the 3 alarm fire of Pellagra….I didn’t know how wrong and right I was at the same time… It would take years to figure this out (as I walked around in circles)….it is what others had concluded before… The IJCD had concluded the same thing a couple years earlier… http://pubs.sciepub.com/ijcd/3/1/6/ They confirmed for me…it was possible… They noted: on how Pellagra occurred in Celiac disease… Pellagra and celiac disease “The two diseases can be connected in two aspects. 58% of pellagra patients were shown to have malabsorption and many had intestinal pathology on biopsies [36, 37]. Alternatively, Pellagra was described in celiac disease [38]. The skin manifestations in pellagra might have some additional etiologies, since multiple nutrient deficiencies are at the origin of the cutaneous manifestations in celiac disease. The following nutritional deficiencies inducing skin rashes, were describe in celiac disease: Zinc, Iron, Vitamin A, E, B12, niacin, folate, selenium and essential fatty acids [39, 40].” So Eureka! I had found what was being misdiagnosed as Celiac disease instead… 58% was good….I was more than halfway there….being right and wrong all at the same time! Then I found that there was another disease that explained these connections even better! https://www.celiac.com/celiac-disease/how-low-thiamine-can-thin-villi-old-research-rediscovered-and-its-clinical-significance-in-celiac-disease-r5100/ Now I had found out what was really causing my problems! I thought…and once again I was right and wrong all at the same time…. While my aim was dead on….it was nutrients (or lack thereof more correctly) causing my health problems… I had become too myopic only seeing individual trees and the not the forest ….for what it was a healthy place to live and thrive and fruit for meat and leaves for medicine… It was all the trees (at least 3 in particular)….together forming a Web of Life… To pivot from the metaphor to hard science (in real life aka IRL) ….how do know this analogy is true….or truer than not! To see if this is true we have to dig deep in the forest of data….and see what it tells us… See this research entitled “Pellagra in the USA: unusual manifestations of a rare entity” https://casereports.bmj.com/content/12/9/e230972 On the surface….it is just as we would suspect…Pellagra is rare in the USA…right only in Alcoholic’s right…. But we if we dig a little deeper….we learn something from this good research… Quoting from their abstract… “They/She had adrenal function testing which revealed adrenal insufficiency. Vitamin testing revealed normal B12 and folate levels but undetectable levels of thiamine, riboflavin and niacin. Her symptoms and signs resolved entirely with appropriate vitamin supplementation. Niacin (vitamin B3) is essential for multiple metabolic pathways, and severe deficiency may cause clinical syndrome of pellagra, which is most commonly associated with diarrhoea, delirium and dermatitis.” Notice the bolded Vitamin Deficiencie(S)….not one deficiency but many deficiencies culminating the a “Capstone” disease diagnosis…. Now why did this researcher not say the patient had Beri Beri (B1 deficiency), or Pellagra Sine Pellagra (B2 deficiency) instead…they/she had ALL these deficiencies…. Because B-Vitamins don’t occur alone or uncomplicated….so I was right to say I had gone on to develop (mostly) Pellagra ….except I didn’t have Skin (dermatitis) problems like DH etc….so I had only developed Pellagra Sine Pellagra instead…(so far)… But I had already gone on to develop Thiamine deficiency aka Beri Beri and the doctor’s had already missed it…. So why should I be surprised they missed me having a Riboflavin deficiency too! What most people don’t know (even doctor’s) don’t realize today….and I have recently found out that Pellagra has been incorporated into Celiac disease today….. Celiac disease is a three alarm metabolic (deficiency syndrome/disease) ramped up by each B-Vitamin you become low in …..in time…. It is a Cascade….like falling domino’s….one falling triggers the others too fall as well… Let’s see if there is research to backup this claim…. See this research published before 1950 (15+ years) before DH was associated with Celiac disease…. https://www.jidonline.org/article/S0022-202X(15)50482-X/pdf They show that DH was successfully being treated with Nictonic Acid aka Niacin more than 15 years before DH was described in the Skin of Celiac patients… Quoting from their summary “In a series of 12 patients with dermatitis herpetiformis of various degrees of severity, the oral administration of niacin in doses of 50 to 200 mgm. four times daily relieved the pruritus (Itching) and improved the cutaneous manifestations.” Yet today we exclusively “see” through50+ years of error(s)…having forgotten that DH can be treated with Niacin…. thus confirming a Pellagra diagnosis in a Celiac patient… It is the third phase (3 alarm stage) of the Vitamin Deficiencies you have now developed…. Don’t be surprised if the doctor’s don’t see your Vitamin Deficiency even then… Because in classic genetics….the environment and nutrition is discounted as limited factors….in disease… But other researchers are now rejecting this myopic view realizing Environment (Viruses etc.) and Deficiencies IE (Vitamins and Minerals) ALSO play a part in the pathogenesis of disease in an equal 50/50 mix…. See this 2 year old research that summarizes such an hypothesis entitled… Reovirus infection triggers inflammatory responses to dietary antigens and development of celiac disease Here is the link…to this seminal and groundbreaking research… https://science.sciencemag.org/content/356/6333/44 /tab-e-letters Where Doctor Leslie M. Klevay , Prof. Emeritus, Department of Internal Medicine University of North Dakota School of Medicine and Health Sciences says quoting “In the original classification scheme, Celiac disease would have been considered a toxic deficiency (3) similar to Wernicke’s encephalopathy in which excessive ingestion of ethanol induces thiamine deficiency. Now some celiac disease can be considered a three-way cooperation among an infection, a toxin and a deficiency. Other three- and four-way cooperations have been identified.” Here is longer and probably better description how Virus's (Environment) or IE Epigenetics could/can trigger an Genetic disease like Celiac disease... https://www.gutmicrobiotaforhealth.com/virus-may-lead-celiac-disease-disruption-intestinal-immune-homeostasis/ The research is a couple years old.....also the Epstein Barr Virus has also been associated with Celiac disease. Dr. Londsdale says we need a “new Model” for Medicine… https://www.hormonesmatter.com/new-model-medicine/ I say we need a better one that acknowledges the environment and deficiencies as important or as important as genetics…. Other researchers have noticed the same thing….your environment and deficiencies are not being taken into account for Celiac’s. See this recent research that says the same thing entitled “Genetic risk factors for disease can be affected by environment” https://www.upi.com/Health_News/2017/08/16/Genetic-risk-factors-for-disease-can-be-affected-by-environment/4251502820421/ Not only are genetic risk factors for Celiac disease being affected by your environment…. they are effected by your deficiencies like Thiamine, Riboflavin and Niacin…. We know this because they have been studied (these three B-Vitamins) for toxic overload in Sepsis…. where the Auto-immune system goes haywire and results in death… See this research in Rats https://pubmed.ncbi.nlm.nih.gov/30903555/ It will take a few years for this study to be confirmed in humans….while more studies are performed more people will be dying of Vitamin Deficiencies…. Despite 8+ years ago Riboflavin has been proven to treat (MADD) disorder resulting in acute Renal Failure…. https://www.jstage.jst.go.jp/article/internalmedicine/50/21/50_21_2663/_pdf/-char/en People still think it is 70/30 genetics or even 80/20 genetics… Recent research for Celiac disease proves it is no more than 50/50 percent Genetics/Environment IE (Vitamins deficiency etc. AKA malnutrition) It is my hope that clinical practice will quickly catchup with the newest/latest research proving DNA/Genetics usually has less than 50pct of the risk factors for Celiac disease and accept many Vitamin deficiencies are prevalent as co-morbidities and need to be addressed before a Valid Celiac diagnosis can be accepted/confirmed…. See this studied that confirms this in Celiac’s https://www.genengnews.com/news/dna-has-relatively-little-say-in-disease-risk-usually/ Where they say quoting “It is becoming increasingly clear,” explained Wishart, “that the risks for getting most diseases arise from your metabolism, your environment, your lifestyle, or your exposure to various kinds of nutrients, chemicals, bacteria, or viruses.” And though Celiac disease is a disease consider to have a higher genetic factor it is now believed to be no more than 50% of the risk factor …..as once commonly believed… quoting again “There are diseases, however, for which the genetic contribution is about 40–50%. These diseases include Crohn’s disease, Celiac disease, and macular degeneration.” But I don’t believe they (doctor’s/Clinicians) will……memory has a “longtail” of approximately 18 years from new research reaching clinical practice on average… Appropriate supplementation is consider a key part of “Aftercare” for Celiac’s ….it needs to be part of appropriate disease diagnosis (IMHO)….so you don’t continue to suffer from the avoidable and treatable diseases that often in as many as 80pct of patients are found out Post-Mortem….as is the case in Wernicke Encephalopathy (WE)… etc.…and it should be NOTED 80% of WE is not diagnosed in Alcoholics….. it is happening in Celiac’s today and/or passed off as other GI diseases like Chrons, IBS, UC etc. and psychiatric or neurogenerative diseases today…. https://www.hormonesmatter.com/beriberi-the-great-imitator/ see this current research on Thiamine Deficiency and Benfotiamine Therapy in Brain Diseases https://biomedgrid.com/fulltext/volume3/thiamine-deficiency-and-benfotiamine-therapy-in-brain-diseases.000621.php You will fell half-dead if you continue to have these deficiencies if they doctor don’t also treat you for these co-morbidities despite being on a gluten free diet! I know I did….Ignorance kills!....but It maims us first! I hope this is helpful but it is not medical advice…. Posterboy by the Grace of God At this point I am only making one Posterboy blog post....see following/below for more technical studies...... Showing how and why this is true and how the doctor's missed it! Note to Self::::::))))) Put this a Part 1 of the Blog post and then link the Smoking Gun research on Tryptophan… ADDENDUM IF this analysis is true and a good working Theory and not just a good hypothesis we would find research that shows Tryptophan is important in the pathogenesis of Celiac disease and new research in 2020 confirmed this analysis. Celiac.com ran a summary of the research but I will link a good synopsis for others to read for themselves showing how Celiac’s have impaired metabolism of Tryptophan. https://www.celiac.com/celiac-disease/tryptophan-in-turkey-meat-can-speed-gut-healing-in-celiac-disease-r5338/ This good synopsis of this working theory shows how Tryptophan speeds gut healing in Celiac IMHO proving Pellagra is happening in Celiac’s. I would recommend reading it ALL when you get a chance. https://www.gutmicrobiotaforhealth.com/gut-microbes-in-celiac-disease-show-impaired-metabolism-of-dietary-tryptophan-according-to-researchers-at-mcmaster-university/ And like most “All” good medical research….they always conclude “more research/study” is needed…. Well people can’t want another 10 or 15 years until this research is again confirmed (and again) See this research entitled “Kynurenine pathway metabolites in humans: disease and healthy States” https://pubmed.ncbi.nlm.nih.gov/22084578/ This connection was established at least 10+ years ago….and now we can say for SURE IMHO that this metabolic breakdown is triggering inflammation in Celiac’s leading, in time, to a Leaky Gut! Again, I want to say (make note) that the International Journal of Celiac disease aka IJCD first noticed this connection 5 years ago…will it take another 10 or 15 years before it is “accepted” medical research??? I hope not: but I AM honestly not encouraged!!! This was meant to be a 2 part blog post….so It doesn’t get too long and too technical…but I have decided to publish it all at once now that I am working through some other health issues at the moment! If this is true….there should be studies about these facts….and there is…. I have argued IT is ONE immune system with multiple presentations of the difference Phases of Vitamin Deficiencies…. We see how this works in the LUPUS Inflammation Model I wrote a Posterboy blog post about these connections…. https://www.celiac.com/blogs/entry/2709-the-lupus-inflammation-model-for-sickness-beginning-with-b-vitamin-deficiencies-in-celiacs-and-other-inflammation-triggered-diseases…/ Here is the recent research it is based on…describing how IL-2 and IL-6 combine to help control the immune system…. We see this Alcoholic’s too…in how Niacin can help Leaky guts… See this Celiac.com thread about this topic… https://www.celiac.com/forums/topic/126496-intestional-permability-could-a-vitamin-deficiency-cause-it/?tab=comments#comment-1009633 And that is exactly what we want to fix in Celiac’s right….well B-Vitamins do that! And we see B-Vitamins are low in other chronic inflammation GI diseases like IBS, Chron’s and UC…because there is ONE Immune System! See this research entitled “Blood Concentrations and Renal Clearance of Water-Soluble Vitamins in Outpatients With Ulcerative Colitis” https://pubmed.ncbi.nlm.nih.gov/30906550/ Quoting “The blood concentrations of vitamins B2, C, niacin and folate were markedly lower in the patients with UC than those in the control group, and the renal clearance of vitamins B1, B6, B12 and folate was notably higher in the UC cohort. It was concluded that vitamins B2, C, niacin and folate were at significantly lower concentrations in patients with UC following adjustment for coexisting factors. The lower levels of niacin may be partially due to impaired reabsorption. Chronic inflammation, common in patients with(my words and/or chrons, IBS etc. and Celiac disease), with UC may contribute to the lower levels of other vitamins by rendering amino acid and carbohydrate metabolism into a hypermetabolic state. As the role of vitamins in metabolic activity is constant and pervasive, nutritional management including the application of water-soluble vitamins appears important for patients suffering from UC.” It is me again….why wouldn’t we think this would be the same in Celiac’s…..and why I believe the new research that shows Tryptophan helps heal Celiac Villi is key to understanding/proving Celiac is Pellagra in disguise in the 21st Century! It is time testing is done to confirm these same B-Vitamin deficiencies in Celiac’s is all I am saying so the Co-morbidities can be treated…leaving a true diagnosis… If not the same Vitamin Deficiencies could be confused for Celiac and you will never be sure if you ever received the proper diagnosis…. I have had to figure this out on my own….this is written so you won’t have t o suffer like I did for year’s going undiagnosed despite a Celiac diagnosis…. Two front wars are rarely winnable. Disguise is a great trick of the enemy. For if you get the wrong diagnosis then the symptom’s never getting better and the battle/war rages on. But What If you have the wrong disease? Would you get better? This is dedicated to those still suffering who are willing to ask why? am I still suffering GI symptom’s on a Gluten free diet? Since (auto-immune) or disease in general rarely occur alone it only makes sense to tackle the easiest one’s first. There are two camps/type of people. (It is true in many things of life). Supplementing or not to supplement is the 64K dollar question. The one’s who believes in supplementing readily attack the front (symptom’s) on/from whatever artillery (vitamins and minerals) they can find to shore up their defenses. The other camp prefers to hunker/bunker down and wait for reinforcement/symptom’s to get better and the battle/siege to pass. But in war there is an old saying. “A city besieged is a city taken”. I know there is a lot of confusion out there. … I have been YOU! I am just trying to help those who are still suffering (losing the war). For a battle the war was lost. And many battles’ are lost from confusion…. Knowledge is power …..know you have to power to move forward! It is been said Doctor’s miss Celiac’s in 90% of their patients… https://www.celiac.com/articles/24919/1/Are-Doctors-Missing-90-of-Celiac-Disease-Cases/Page1.html It is equally true about how often Vitamin Deficiency are missed in Celiac’s… “How could this be? One reason is that even classic Celiac disease symptom, such as abdominal pain, bloating, gas, diarrhea, anemia and weight losscan mimic other conditions. Less classic symptoms such as fatigue, low vitamin C, D and calcium levels can be misleading.” Lupus is known as the great imitator disease. And Celiac or is it Pellagra could be called the same in 87% of cases if you are lucky. And so is Beri Beri… https://www.hormonesmatter.com/beriberi-the-great-imitator/ Imitation is the sincerest form of flattery — Unless it is medicine then it is the unkindest cut. . . How do we know this is true…we can predict that Pellagra would develop in Sorgen’s disease aka SLE or LUPUS and it does…where they ask how confident are you of your diagnosis…explaining DH in detail (IF) you did not know it also described Pellagra instead (Rough Skin)… https://www.dermatologyadvisor.com/home/decision-support-in-medicine/dermatology/pellagra/ Dermatology doctor’s get it because a Niacin deficiency is 90% classically described as a skin disorder first and foremost…. But Beri Beri and Pellagra GI’s problems are a forme fustre of WE’s….FIRST a Thiamine deficiency and finally a Niacin deficiency when it present’s as DH today! See this research that explains how the first signs of these Vitamin Deficiencies are GI related… .entitled“Gastrointestinal Beriberi: A Forme Fruste of Wernicke's Encephalopathy?” https://pubmed.ncbi.nlm.nih.gov/29982183/ I can only hope what I have shared here has lifted the tide of knowledge a little and your boat/that has been lifted enough for you to freely sail again. Learn from my mistakes! No body is so dumb who won’t learn from other people’s mistakes! A valid I dare say standard “process” of modern/good medicine is the differential diagnosis. If it is not the doctor has not done justice for you or YOU for yourself . … A “differential diagnosis” makes more sense. They have not done YOU justice. Isn’t that what we all want – to know just what we need to do to get better that is justice/peace and good medicine. We are our own best advocate! I share that other’s may know to look for these Vitamin Deficiencies if you too received a Celiac diagnosis and the Doctor’s don’t “See” it in your face….like those of nearly 70 years ago who were treated for DH by Niacin(amide)…… 15+ years before DH was ever linked to Celiac disease Remember **** This is not medical advice and should not be considered such. Results may vary. Always consult your doctor before making any changes to your regimen. 2 Timothy 2: 7 “Consider what I say; and the Lord give thee understanding in all things” this included. As I am fond of saying “To Educate is to truly free!” Where there is a free exchange of knowledge there is health and peace for one’s soul and body! Let’s all make peace for to educate is to empower to change. Change is not easy . . especially if you have a bunker mentality I grant . . . but possible with education for with education comes understanding! 2 Corinthians (KJV) 1:3,4 3) “Blessed be God, even the Father of our Lord Jesus Christ, the Father of mercies, and the God of all comfort; 4) who comforteth us in all our tribulation, that we may be able to comfort them which are in any trouble (starfish/sufferer), by the comfort wherewith we ourselvesare comforted of God.” Posterboy by the Grace of God, EPILOGUE We know this is a good working theory because both B1 (Thiamine) and B3 (Niacin) are used in the production of stomach acid. Quoting from the Celiac.com article on How Low Thiamine Can Thin Villi How Low Thiamine Can Thin Villi: Old Research Rediscovered and its Clinical Significance in Celiac Disease - Celiac.com “Via the Parasympathetic Nervous System (PNS) the neurotransmitter "acetylcholine" regulates our organ functions throughout the body, and could be why both undiagnosed celiac disease and Beri Beri affect so many organs in the body. Without enough thiamine our body can’t synthesize enough acetylcholine to regulate it’s organs, which may cause the body to go into high alert mode and trigger a runaway auto-immune reaction like celiac disease. Another study shows a connection with the microvilli that line organs and how they can trigger auto-immune reactions throughout the body.” B3 aka Niacin via Histamine is used to trigger stomach acid production and why an H2 Blocker is used to treat stomach acid issues….and can be used for other immune mediated conditions like allergies etc… Low Thiamine (B1) triggers the Auto-Immune Cascade….leading to low B2 (Riboflavin) and finally resulting in Low B3 (Niacin)…. who’s production in the body is regulated by Tryptophan via the Knyneurine Pathway and why Tryptophan recently was shown to help heal Villi in Celiac’s. And why just over 7 years ago PPIs were shown to be able to trigger a Celiac diagnosis. Do Proton Pump Inhibitors Increase Risk of Celiac Disease? - Celiac.com See my previous Posterboy blog post about why this so. Is there a Type I and Type II Celiac Disease IF so what is your Type: What the Diabetic Model can tell us about Celiac Disease Subtypes? - Celiac.com Niacin (B3) and Thiamine both help control the Biofeedback loop in the body and why being low in either one will trigger an auto-immune cascade! And Note: it is not just humans who need Thiamine to live/survive ALL animals need it even Bacteria and Fungus. See this latest research from 2020 entitled "Born to be wild: Fungal highways let bacteria travel in exchange for thiamine" that shows/explains how Bacteria and Fungi or Fungus use Thiamine as "Currency" along "Life's" highway.... https://www.sciencedaily.com/releases/2020/09/200924114128.htm Dr. Lonsdale called Thiamine the "Spark of Life".....I have called it the "Currency of Life"....because your health will be poor without IT! So we know this is true! Even at the microscopic level! You will feel half-dead if you continue to have these deficiencies if they doctor don’t also treat you for these co-morbidities despite being on a gluten free diet! I know I did….Ignorance kills!....but It maims us first! Lord willing it has been helpful and will it will help someone before the medical community catches up with the latest research on the topic. As always 2 Timothy 2: 7 “Consider what I say; and the Lord give thee understanding in all things” this included. Posterboy by the Grace of God- 2 comments
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Celiac.com 12/08/2020 - Are you confused about genetic testing for celiac disease? Do you want to know what tests you should request and which laboratory to use? Have you already had celiac DQ genetic testing but are not sure what the results mean or what your risk is of developing celiac disease or gluten sensitivity? These are the questions I will answer in the next few pages. What is HLA DQ celiac genetic testing? To understand celiac DQ genetics and the risk estimates you must also understand how the DQ types are determined and some basic terminology. Each of us has 46 chromosomes, 23 pairs received from our parents. We all have two copies of chromosome 6, one from each parent. Homozygous is when a person has two copies of the same gene, one from each parent. Our white blood cells (leukocytes) have proteins called human leukocyte antigens or HLA proteins that are inherited from our parents. The genetic code that determines our HLA patterns resides on chromosome 6. We all have two DQ patterns, one from each of parents, such that we are all DQx/DQx, where x is a number between 1 and 9. I am DQ2/DQ7 and my wife is DQ2/DQ5. We are both therefore heterozygous for DQ2. That is, we have only one copy of DQ2. Scott Adams, the founder of celiac.com is DQ8/DQ8. He is homozygous for DQ8. There are several HLA patterns. Some are proteins that reside within cells and others are on the outer surface of cells, and are called class II. The class II HLA proteins have very important immune functions. There are several class II HLA protein types but DQ have been found to be important in celiac disease, specifically DQ2 and DQ8. What does it mean to be homozygous or heterozygous for celiac genes? Homozygous means that you have two copies e.g. DQ2/DQ2, DQ8/DQ8 whereas heterozygous means you have one copy of DQ2 or DQ8. Some people have one copy of DQ2 and one of DQ8 (DQ2/DQ8) and they have a greater risk for celiac disease than someone with only one copy of either DQ2 or DQ8 but not as great a risk as someone with two copies of DQ2 (DQ2/DQ2). Since DQ2 is associated with a greater risk of celiac disease than DQ8, then one copy of DQ2 plus a DQ8 (DQ2/DQ8) indicates a higher risk than having two copies of DQ8 (DQ8/DQ8). Hopefully, I have not lost you yet but if I have please continue to read on because the information that follows will still be helpful to you. What is this alpha and beta subunit typing and why is it important? HLA DQ typing consists of two subunits of the DQ molecule, an alpha and beta subunit. So, both DQ types that indicate a risk of celiac disease, DQ2 and DQ8, are made up of two protein subunits designated alpha and beta. They determine the complex letter and number combinations reported. For example, the full DQ2 molecule is typically HLA DQA1*05xx DQB1*02xx. The A1 is the alpha unit and the B1 is the beta subunit. The beta subunit is the most important component of the DQ molecule, but the alpha subunit has also been shown to carry an increased risk for celiac disease. Unfortunately, since testing for both is more complicated and expensive it is not always done. Also, some think that since the beta subunit carries most of the risk and the alpha unit only minor risk, testing for only the beta subunit is adequate. Several clinical laboratories have chosen this approach. They only test for, and report on, DQ2 and DQ8 based on beta subunit types, so their results typically look like this: HLA DQB1*02 detected, DQ2 positive, etc. This is the policy of the laboratory at Bonfils, who also does testing for Quest Diagnostics and Enterolab as well as many hospitals. However, the alpha subunit of DQ2 also carries some risk for celiac disease. What if you are positive for the beta subunit of DQ2 or DQ8 by testing from Bonfils, Enterolab or Quest? If the beta subunit is present then Bonfils, Enterolab and Quest tests will report DQ2 and/or DQ8 positive. Sometimes the report will just report DQ2 negative and DQ8 negative, especially when a hospital is reporting the results obtained from Bonfils. However, when the beta subunit is not present and they report DQ2 negative and/or DQ8 negative, it is still possible that an alpha subunit could be present. Results reported in this manner are, in my opinion, potentially misleading. I believe they can lead a doctor to assume that an individual is not at increased risk for, or cannot have celiac disease, when this may or may not be true. Unfortunately, the patient in such circumstances may be told that they can not have celiac disease, yet they may not only be at risk for the disease, they may well have it while being told it is impossible or extremely improbable. What does Prometheus do and how do they report their results? Prometheus, like Kimball and LabCorp, includes alpha and beta subunit typing. In the past they did not indicate whether there was one or two copies of DQ2 or DQ8 if someone was positive. If a patient was DQ2 and DQ8 positive then these labs reported their full genetic DQ type. However, if one or the other was negative, their exact genotype was not reported. Recently, not only has Prometheus started reporting the full DQ2 and DQ8 genotype, but they are now reporting whether someone is homozygous or heterozygous as well. They are also reporting the relative risk for celiac disease based on the pattern shown by testing. However, they are still not reporting the other DQ types. What is the advantage of the new Prometheus reporting? Since Prometheus results now include a calculation of the individual’s risk of celiac disease, compared with the general population, the patient can see how high their risk of celiac disease is, as well as being able to estimate the risk for their parents and their children. As you can see, the risk of celiac disease has a wide range of possibilities, which depend on the individual’s DQ results. This risk can be below 0.1% if you do not have any portion of the high-risk genes DQ2 and DQ8. On the other hand, the risk may be very high (more than 31 times the risk of the general population) if you have two copies of the full complement of DQ2 molecule. Again, I would like to point out that if you have DQ2/DQ2, DQ2/DQ8, or DQ8/DQ8, then both of your parents and all of your children have to have at least one copy of an at-risk celiac gene. Your child’s complete type will depend on the DQ contribution from their other parent. What other laboratories do both alpha and beta subunit testing? Kimball Genetics and LabCorp also report both alpha and beta subunit results but the advantage of their testing is that they report the other specific DQ types detected. Gluten sensitivity is found in all DQ types except DQ4. Other DQ types, particularly DQ1, DQ5, are associated with a risk of gluten related neurological and skin problems. Microscopic colitis, food allergies and oral allergy syndrome reactions are also found in association with other DQ types. Though Enterolab does report other DQ types, including these markers of risk for gluten sensitivity, they do not test for, or report, alpha subunits since their DQ testing is done by Bonfils. Based on the limited data I have accumulated so far, DQ2 and DQ8 also seem to carry a risk of mastocytic enterocolitis. What if you do not have DQ2 or DQ8? According to data accumulated, but as of February 2008, not yet published by Dr. Ken Fine, unless you are DQ4/DQ4 you are still at risk for being sensitive to or intolerant of gluten. According to Fine’s fecal gliadin antibody data all DQ types except for DQ4 carry a risk of gluten sensitivity. My clinical experience supports this claim. The presence of one copy of DQ1, DQ3, DQ5, DQ6, DQ7, or DQ9, even with one DQ4, is associated with a risk for elevated stool gliadin antibody and symptoms of gluten sensitivity that responds to a gluten free diet. What if your genetic testing was done by Enterolab, Quest, Bonfils or a hospital that utilized Bonfils, and it indicated that you were DQ2 and DQ8 negative? Since Bonfils does not test for the alpha subunit and they perform the testing for Enerolab and Quest, you may not be completely negative for DQ2 or DQ8. You do not have the beta subunits associated with the highest risk for celiac disease. For example, you could be “half-DQ2” positive and still be genetically at risk for the autoimmune form of gluten sensitivity that we know as celiac disease, along with all of its risks. What if you have not yet had celiac DQ genetic testing? I recommend that everyone have the testing. I realize that most insurance companies and doctors, including some celiac experts, would disagree with me. However, the value of DQ testing is that it can provide a great deal of information about your risk, especially if you have testing done for both alpha and beta subunits. I recommend that you have testing done by Kimball Genetics, LabCorp or Prometheus if you have not yet had genetic testing done. If your insurance or budget does not allow for this more expensive testing, but does cover testing by Quest or Bonfils or you can afford the $159 that Enterolab charges, then I still recommend that you get DQ testing using one of these laboratories. You just need to be aware of the limitations of the results as I have reviewed them here. What are the advantages of DQ testing through Kimball Genetics? Kimball can perform testing on either blood or mouth swab samples. The tests can be ordered without a doctor’s order. You can purchase testing on mouth swab sample for $345. The advantages of Kimball’s tests include alpha and beta subunit testing and full DQ typing to determine if you carry the other gluten sensitive DQ patterns besides DQ2 and DQ8. What about LabCorp? LabCorp also provides both alpha and beta subunit testing and they report the other DQ types. They only provide testing on blood samples, a doctor must order the testing, and preauthorization is required. Do health insurance companies cover celiac DQ genetic testing? Many but not all health insurance companies cover HLA DQ testing and almost all require preauthorization. The ICD9 diagnostic codes that typically are honored are V18.5 genetic predisposition for gastrointestinal disease; V84.8, genetic predisposition for other diseases; and 579.0, celiac disease. Why are the genetics so difficult to understand and why are so many doctors either unaware of the testing or reluctant to order the tests? I write and speak about DQ genetic testing frequently, and try to get testing for as many of my patients as possible. However, many insurance companies will not cover the cost of these tests. Most primary care doctors and even some GI doctors are completely unaware of the existence of a genetic test for celiac disease. The testing is difficult to understand and the reporting by some labs is very confusing and even misleading. I realize that understanding the DQ genetics is difficult for the average layperson. Most scientists and doctors don’t understand this information, so don’t despair if you are having difficulty following this or understanding your results, and don’t be surprised if your doctor does not understand them either. However, you do not need to completely understand the complexities of HLA typing to locate your DQ types on figure 1 and determine your risk of celiac disease, non-celiac gluten sensitivity, etc. Then what do you need to know or remember about celiac DQ genetics? Hopefully, you now understand enough to know that you should consider having celiac DQ testing, if possible, especially if you have symptoms, laboratory tests, or an intestinal biopsy that is suggestive of celiac disease. You should also know that the testing can be done on blood or mouth swabs, and many insurance companies will cover the testing but most require preauthorization. You should also be aware that the testing is available without a doctor’s order, if you are willing to pay for it, and that some tests are better than others. I also hope you understand that the tests can help you determine your risk for celiac disease or if you are at risk for non-celiac gluten sensitivity. You should also know that your results, especially when combined with those of one or more family members, may help you determine, to some degree, the risks for your parents and your children. You should also know what laboratories offer testing, what test codes your doctor should use to order the tests, and that the absence of DQ2 or DQ8 does not exclude risk of gluten sensitivity or intolerance. Depending on what laboratory conducts your DQ testing, your results also may fail to exclude your risk of celiac disease. What if I am still confused or I don’t know how to interpret my genetic results or my previous evaluation for celiac disease? If you are still confused by your test results or want more a personalized review of your results, symptoms or diagnostic tests I recommend that you see a physician who is an expert in celiac disease and understands these tests. I also offer on-line consultation for a reasonable fee through a secure consultation site, medem.com. You simply register (registration is free) for secure on-line communication and request a consultation. The consultation fee is $50, and some insurance companies will cover on-line communication. I also see many patients from outside of Colorado Springs for consultation if you are willing to travel here. -
Celiac.com 12/18/2020 - This understanding of viruses is actually the culmination of my study—and the reason why my book has not been written—yet. I have been waiting for the “punch line” and this is it—how we actually reap what we sow in our physical lives. All it takes is a brief review of virology and what these little guys do in nature—which is vital to the creation and its moment-by-moment operation—and then we can see the truth about why it has all gone wrong. Am I over-dramatizing? I don’t think so. Simply put, viruses were made to adapt. They also are integral in the variation we see in nature. The other essential piece of information you need is how they incorporate their genetic information into ours. Once again, it is a scientific FACT that we have more viral information in our double stranded DNA than we do genes. Wow—does that answer a lot! So, do the genes that code for your eye color or the fact that you have two rams, two legs, one liver, and one nose suddenly mutate and give you a “genetic” disease? No, it is the viruses embedded in that DNA that do this. They have been there for generations and new ones are added with each generation. The acquisition of viruses was meant for good—to help us to adapt to our ever-changing environment. So, we should really thank someone who gives you a virus, shouldn’t we? If we were optimally healthy, we would acquire the guy and get on with our healthy lives. BUT, because of what we have done to ourselves, the environment, and the animals that harbor many of these viruses, some of the viruses have become “virulent”. Yes, they have been FORCED into adapting into something stronger because of what we have done. Once again, we reap what we sow. Then, as we become more and more unhealthy while continuing to challenge our viral inhabitants with lectins, chemicals, pollution and “carcinogens”, we reach critical mass. Our immune system IS the governor of this situation and is constantly trying to control this situation. We have all heard it said that we are fighting cancer at every moment of every day. Yep. So, what happens when we “assassinate our governor” by doing what we do? Yes, the poor nutrition, malabsorption syndromes caused by the “big 4” food intolerances, the lack of sleep, the chemicals, and more are ALL bullets that were firing away at our governor. Once again, we reap what we sow. With an ineffective, bullet-riddled governor and the continuation of the virus-challenging process, we lose our grip while the viruses are forced to adapt into something more powerful just to survive (which again is what they were charged with from the beginning—to adapt at all costs—even to our detriment if it came to that). Think of them as little robots. Well hey—look at them. Most of them LOOK like little robots. Have you seen them? They have a head that looks like the geodesic dome of the Epcot center. They have legs like a lunar lander and are very mechanical looking. So, the analogy is most accurate. Are they living or not? A great debate rages on about this. I think they have to be, just not by the standards that we normally use for “living”. Think of them as androids. Yeah, that’s it. And yes, once backed into a corner, they play their ultimate card—to induce a tumor that protects them and the cells in which they reside—a fortress that walls itself off from these continued challenges. I used to think they were trying to escape the immune system—now I know better. And, does a single tumor in a lung lobe or lymph node kill anyone? Hmmm—how about the drugs and radiation designed to kill that tumor? Hmmm—again. Oh oh. And what’s more, what does a virus get forced into doing if its new cocoon is threatened? MOVE, right? Yes, that is called metastasis. So simple, so clear—right? Question: Would cancer resolve IF we did enough right by stopping what we are doing that is driving these viruses crazy? We know we can prevent cancer by doing these things, right (Unfortunately, it is more appropriately put that we can accelerate cancer by doing enough bad things)? But could we take a person who has cancer (or any chronic viral disease), move them to a pristine location, feed them perfectly, give them unpolluted water, and alter their lifestyle so that they sleep well and get plenty of exercise and have that cancer or condition resolve? I believe the answer is a resounding YES, YES, YES. There is plenty of evidence of this. We hear stories of people curing themselves of cancer, MS, and other serious conditions and dismiss them because we simply don’t believe that we can recover from such things. What an attitude, eh? Where did that come from anyway? When did we lose faith in this miraculous body? And when did we start the process of literally handcuffing its attempts to heal itself by taking all of this symptomatic medication (e.g., NSAIDS to reduce fevers caused by viruses)? I know when and it fits like a glove into man’s history. I no longer put any limitations on what this body can do, only one what WE can do for our body. Does that pristine environment exist? Can we eat perfectly with what we have done to our food supply? The good news is that we don’t necessarily have to be perfect. The absolute worst of the worst do, unfortunately. But everything I have learned about medicine in the past six years screams at me that we are made to recover. We just start too late and rarely do enough—right? But once we see that disease is a “spectrum disorder”, with its victims ranging from the “best of the best” to the “worst of the worst”, we can easily see why some people get better with “holistic” treatment and others do not. Have those that don’t done enough right? So, what IS the cure for cancer? Does the answer lie in the laboratory? Is it hidden in the jungles of South America? OR does it lie within us all? I think we all really know the answer to this one now, don’t we? And once again—how cool is that? -
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Celiac.com 09/25/2020 - New research into the origin of our medical woes has revealed something startling: As it turns out, we are our own worst enemy. Yes, the Pogo quote of yesteryear found in the title of this article is quite accurate when applied to our medical lives. We love to discuss those things that we call “causes” of diseases even though we often have little knowledge of how these things really cause illness. Even medical professionals can have difficulty grasping the true cause-and-effect. But that becomes understandable once some insight is gained into the true nature of medical training. One would think that we are exposed to the gamut of current medical knowledge in medical school. But in fact, we gain limited knowledge as to the true workings of pathogens, parasites, and chemical insults. Sure, we are often taught which virus or bacteria causes a certain disease state and are then shown the established/accepted mode of therapy. But most of us never gain an appreciation for the circumstances that led to that illness or why one individual has the condition while the next person remains healthy. We are also not told why many of these “pathogens” are ubiquitous in the environment and yet only cause clinical syndromes in a relatively small percentage of individuals. We refer to “immunity” but don’t delve into the fine points of why one pet or person lives to a ripe old age while the next one develops cancer or some other catastrophic illness at a much earlier age. We usually point to the old standby of “genetics” for the explanation. As many of you know, I love to discuss “genetics”. Now, I do not claim to be an authority on the subject, but I do love kicking it around. I like to ponder the logic behind scientists’ referring to certain diseases as “genetic” without offering a good explanation for why these “genes” wait so long to manifest. Do genes wait? Do the genes that code for our brain, liver and kidneys to form properly wait for 6 months or 6-60 years to do what they do? I get a kick out of reading how genes “mutate”, as well. Certainly, we do get true genetic mutations at times (e.g. one arm, one kidney, two heads) but thankfully these are relatively rare when compared to the number of “genetic mutations” that have been reported to cause disease. Here’s a door-opening key: Researchers now estimate that up to 45% of the genetic information in our DNA is viral information, some active and some extinct. Have you grasped the importance of this yet in relationship to the preamble above? Think about it for a moment before proceeding. Got it? Can you now see that our DNA not only contains the information that makes you who you are phenotypically (outward, observable appearance) but also has information encoded in it that can govern the outcome of your medical life. Yes, your double-stranded DNA is a little virus hotel and the guests can get a bit rowdy. I love to tell people that if I could do a Star Trek type of scan on then and give them a print out of all of the viruses in their body, both “genetic” and acquired, then they just might take better care of themselves. But here is the good news...the really cool news...the new “medical gospel”. We have much better control over our medical lives than most think or have been told. In fact, it is phenomenal how much control we have over whether we live a long, healthy life or a brief, afflicted one. How can that be, especially if these “culprits” are in our very DNA? Ahhhh! There is the amazing thing to see. They are not culprits. Viruses are residing in our body for a purpose and a good purpose at that. Viruses are responsible for two critically important functions in nature: Variation and adaptation. Yes, it is the virus that is behind much of what is termed “evolution”. Many viruses can change in response to alterations in their environment, sort of like a chameleon or a flounder. (How do they do that, anyway???) How did we end up with soooo many variations of butterflies? As many of you know, I am a creationist and wholeheartedly believe in God. But I also see how He could have used viruses to facilitate the wide array of appearances among the different species of insects, animals and plants. There are numerous species of butterflies. However, they are all butterflies. In order to prove his theory of evolution, Darwin himself said that finding numerous inter-species would be required. Have we found them? Would he now believe in his original theory? But the focus of this medical discussion should be on the adaptability of the virus. Yes, they are quite adept at this maneuver. And that is to our benefit more than it is to our detriment. Viruses exist throughout nature and our individual bodies in order to facilitate our adaptation to this ever-changing environment. If we could snap our fingers and take all of the viruses out of nature, the entire ecosystem would collapse, including this amazing thing we call a body. They are busily working away to help us cope with daily challenges such as air pollution, malnutrition, hormonal variations, and other microorganisms. They sense the change in their surroundings and react- and appropriately, I might add. “But what about the ‘diseases’ they cause?” you might be asking. Well let’s use my favorite example called cancer—nearly everyone’s biggest fear. We have demonized the virus in those forms of cancer that have been publicized as being “caused” by the virus. (I believe that most of you will hear in your lifetime that all cancer is viral.) In reality, the virus would not have caused the cancer without being goaded into it by what we call carcinogens. And, the cancer would not have developed had the immune system not failed in its duty. So, we suddenly see that cancer, like so many other conditions, is a “syndrome”, with multiple factors coming together to produce the result. Now, let’s dissect that premise for a moment. Viruses are in situ, doing what they do, adapting to changes and insults that are thrown our way. Along comes a “carcinogen” and the virus forms a tumor. Now whose fault was that? I mean, can we blame the virus for making a cocoon for itself and the cell it was charged to protect? (Do you see how I tried to just quickly slip that past you?) But seriously, I now look at tumors as the ultimate adaptation of the virus that we know “causes” the cancer. Once the insults are bad enough, the viruses goes into survival mode, telling the cell to replicate itself in order to survive the caustic insult we call a carcinogen. Is that too far-fetched? Again, this process does not occur until one more thing of vital importance takes place, which is the failure of the immune system to do its job. Yes, as some love to point out at cocktail parties, we are all fighting cancer as we speak...hopefully. As long as we possess a competent immune system, we are successful in our battle to keep cells that are being challenged with carcinogens (that we face every single day) from turning into cancer. However, once our immunity wanes, we are subject to these ongoing processes. Thankfully, there is an intermediate stage called “immune-mediated disease” where the immune system does housecleaning to rid our bodies of these revolutionaries that are gaining an upper hand in the face of our deteriorating governor. A number of wise doctors have said that cancer is the end game of immune mediated diseases, meaning that cancer often follows long bouts with “autoimmune*” conditions (*a term I no longer use). And they are right IF we survive the immune mediated attack. But how do we treat “autoimmune diseases”? Yes, we use immune suppressing drugs. Oh,oh! The term “pretzel logic” comes to mind. This is in the same vein as using carcinogens to treat cancer. Kinda sorta doesn’t make good sense. So whose fault is it when we fail with our current mode of therapy in the treatment of autoimmune diseases and cancer? “Darn those viruses and carcinogens.” So why is there so much variation in the age of onset and severity of cancer? I think we should all be gaining some insight into this conundrum by now. Cancer, like so many diseases, is a spectrum disorder, meaning that we have individuals ranging from the “best of the best” to the “worst of the worst”. The best live to be over 100 years old and experience a relatively disease-free life. The worst don’t survive the time in the womb. We see brain tumors and leukemia in the very young and in the aged. We also see age spikes in the cancer rates that are quite logical, accompanying concurrent stresses such as adolescence and “the wall” at age 40, while observing a meteoric rise after age 65. I used to call cancer viruses “opportunists”, applying to them the connotation of being malicious or even “evil”. But now I see that categorization was inaccurate and downright unfair. They are not waiting around to cause cancer or other diseases; they are FORCED into it by us. We are the ones supplying the carcinogens. We are the ones eating diets that are filled with potentially damaging proteins (gluten, casein , soy, and corn), chemicals, trans fats, and food additives. We are the ones who are trouncing our immune systems through poor diets, lack of exercise, improper sleep, and crazy lifestyles. We are our own worst enemy! We are quite accomplished at the blame game when it comes to shirking our own responsibilities in this process. But, in all fairness, it is not completely the patient’s fault. Look at the current medical and pharmacological approach to the symptoms we experience. “Got a fever? Not anymore. We have a pill for that. (Forget that fever is essential in the proper immune response.)” “Got heartburn, IBS, headaches, fibromyalgia, insomnia, or depression? Not anymore. We have lots of pills for those. (And you no longer have to worry about what causes them because “these medications can be taken for life”.) So, whose fault is it when those symptoms go away and the next and more severe set arise? I tell people, “If you don’t like these warning signs, you’re really not going to like the next set. And if you don’t like those, you’re really not going to like what they are warning you of.” What’s the bottom line? We need to wake up! We need to realize that our bodies are an amazing entity with the ability to withstand serious insult- repeated, ongoing insults. But, there is a limit to what it can take. Thankfully, that limit is quite gracious. But there will come a time when our bodies and those incredible little viruses in them say enough is enough. The phenomenal thing to see is that we have the vast majority of the say in when that occurs. We simply have to stop doing the harm that we are doing to these downright miraculous vessels that we have been given. It is that simple. It is not necessarily easy, but it is that simple. Are we our own worst enemy? We don’t have to be. Now that’s great news! -
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Celiac.com 04/03/2020 - I don’t recall ever hearing of celiac disease before I diagnosed myself 7 years go, at age 75. When my doctors found no answer to my disabling colitis, I turned to a surprising wealth of universal web-site information about healing my microscopic-colitis, about gluten sensitivity, and its wide range of toxic possibilities. This is but one of the numerous articles that was vital to my education in ‘02: The neurology of gluten sensitivity: separating the wheat from the chaff. LLWonline 2002 Dept.of Neurology,Queen’s Medical Centre, Nottingham, UK. "Clinocopathological features heal on a gluten-free diet and relapse when gluten is reintroduced...A number of neurological syndromes may be associated with celiac disease...This is an exciting hypothesis because it offers new therapeutic possibilities including simple exclusion diets...” Little did I realize that the disease, being genetic, would cause a revolution in my life, reaching far beyond my own illness. My gene test results with Dr. Kenneth Fine, (www.enterolab.com) indicated that I had two identical genes for gluten-sensitivity. His report explained, “Having two copies of a gluten-sensitive or celiac gene means that each of your parents, & all of their children will possess at least one copy of the gene." This startling information seemed to present the first opportunity to identify the causes of numerous mysterious and tragic illnesses and deaths in both of my parents’ families. One by one I was shocked to discover or recall illnesses that could probably be linked to parents and grandparents now known to be gluten-sensitive. My test result became the nucleus of my discoveries. Although my research and writing have been limited by concerns for the privacy of family and friends, as well as by the comparatively small number of family members with whom I have been in touch on a regular basis, I suspect that my summary of newly discovered and recalled family history can be a vital addition to the growing technical research on gluten toxicity. Everyone who is referenced here has a direct familial-link to my mother or my father. As each of my parents had 5 siblings, these are large families, but replies to my suppositions have been rare; of the twelve relatives who decided to be tested so far, five results have been positive for celiac or gluten-sensitivity. Aside from the startling reports linking dietary-gluten and dementia, perhaps even more shocking is the possibility that gluten may provide answers concerning the mysterious deaths of my younger brother and my two young adult nieces by cancer. My gene test indicates, in addition to my brother’s link, that each of my nieces had at least one parent and two grandparents with at least one gluten-intolerant gene (Increased Cancer Risk Associated With Delayed Diagnosis of Celiac Disease). The following summary of the generation-statistics available to me, of family-members who have a probable link to this genetic-sensitivity, may simplify my report: In our oldest generation, my maternal grandmother was reported to have critical “senile-dementia” ; and my paternal grandfather was a victim of Parkinson’s disease. Of their offspring, the deaths of my mother and her three sisters were all attributed to Alzheimer’s disease (my mother’s 1980 autopsy specifies this finding). Her brother was a cancer-victim, with possible dementia; and my father’s sister inherited my grandfather’s Parkinson’s disease. In my generation there are 4 relatives who have succumbed to Alzheimer’s; three first-cousins and my sister who is in the last-stages. My youngest brother was a victim of cancer and bi-polar disease. Another cousin and I have tested positive for gluten-sensitivity; while two additional cousins are victims of Parkinson’s—one in each family; while one of these cousins was a cancer victim as well. In my children’s generation, my daughter and a cousin have been diagnosed with gluten-sensitivity, and two of my young-adult nieces died of cancer. In this youngest generation, my grand-nephew has tested positive for celiac disease, and at least three young relatives have exhibited commonly-reported signs of Asperger’s (on the Autism-spectrum) and one of them has been diagnosed with this condition. Some new genetic discoveries concerning Parkinson’s explain the inclusion of this disease in my summary. (From “Psychiatric News, Sept.17, ‘04,Volume 39 #18 ) “Could it be that the two most common neurdegenerative disorders—Parkinson’s disease and Alzheimer’s disease—share the same common origins?” I have also included Asperger’s and bi-polar disease, two additional alterations to brain function that are possible results of gluten-toxicity. (“Gluten Causes Brain Disease” by Prof. Rodney Ford M.D.) My own brain-condition, at age 82, may present a wider view of “cognition”, as the Alzheimer’s disease literature seems to focus primarily on memory. As most of my family resides in another city, I have been far more educated about senior-issues in the six years I have been a tenant in a large senior-housing facility. My mysterious life-long memory-disability, which I now recognize to be celiac-induced, has progressed in its severity to match the disappearing memories of several current neighbors, who are exhibiting obvious or diagnosed dementia, along with several more who have moved to full-care facilities. It has been of particular importance to me, to be able to study the differences in our “cognition”. At some point these friends have eventually required daily aid for household tasks they can no longer perform. But, in spite of my severe memory-loss, the aspects of my cognition for reasoning, awareness, and especially (as an artist), my creativity, have not been affected. If I am correct, that this is probably due to my seven years of being gluten-free, this may be of great importance, proving that under similar circumstances dementia may be avoided, even as a senior. I have also learned that although these seven years of being gluten-free have resulted in a few welcome changes, the previous 75 years of ingesting gluten have probably resulted in the limited healing of most of my other symptoms. These include ataxia (loss of balance) chronic migraines, permanent dermatitis herpetiformis (that is about 50% improved) and minor but continuing colon damage. The celiac factor in my degenerating osteoporosis and widespread arthritis has gradually necessitated the use of a walker for at least two years—yet one more obvious consideration for testing of gluten-sensitivity at the earliest possible age. There are some reports now estimating that approximately 1 in 100 persons have celiac disease and approximately 1 in 10 people are gluten-sensitive. The results of the chance union of my two genetic, gluten-affected families, has created circumstances that far transcend coincidence, and should not be ignored. -
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Celiac.com 07/29/2019 - Gluten and related prolamines trigger celiac disease in people who are genetically susceptible. The role of HLA-DQ genotypes is not well understood. A team of researchers recently set out to investigate the influence of HLA-DQ genotypes in clinical, serological and histological features related to celiac disease. The research team included Eva Martínez-Ojinaga, Marta Fernández-Prieto, Manuel Molina, Isabel Polanco, Elena Urcelay and Concepción Núñez. They are variously affiliated with the Servicio de Gastroenterología y Nutrición Pediátrica, Hospital Universitario La Paz in Madrid, Spain; and the Laboratorio de investigación en Genética de enfermedades complejas, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC) in Madrid, Spain. The researchers conducted a retrospective observational study that included 463 Spanish patients with biopsy-proven celiac disease. The team collected clinical, serological, histological and HLA-DQ genetic data from each patient. They considered each patient's family history of celiac disease. They analyzed the data using chi-square tests or the Fisher’s exact test, along with multivariate logistic regression (after adjusting for age and sex) to assess the association between clinical and laboratory parameters with HLA-DQ. The team's sample group was 62% females, with 86% showing classical clinical celiac presentation, and 99% showing positive anti-transglutaminase 2/endomysium antibodies. Patients averaged about 30 months old at disease onset. This study puts the rate of celiac disease in first-degree relatives at about five percent of total patients, while HLA-DQ genetics showed increased homozygosity of HLA-DQ2.5 and HLA-DQ8. In the non-celiac disease family history group, an association between delayed disease onset and HLA-DQ8 carriage was observed (p < 0.001), besides an influence of HLA-DQB1*02 gene dosage on clinical presentation and severity of histological damage (after adjusting for age and sex, p = 0.05 and p = 0.02, respectively) and a trend towards presence of specific antibodies (p = 0.09). Due to the small sample size, these associations could not be properly assessed in the group of patients with affected first-degree relatives. For people with celiac disease, HLA-DQ genotypic frequency varies depending on the close family history of the disease. For people who do not have first-degree relatives with celiac disease, carrying the HLA-DQ2.5 gene with double dose of HLA-DQB1*02 seems correspond to classical clinical celiac presentation and more severe gut damage. Clearly more study is needed to get a better picture of the connections between HLA-DQ genotypes and particular manifestations of celiac disease. However, this study offers one more piece of the celiac disease and genetics puzzle. Stay tuned as more information becomes available. Read more in BMC Gastroenterology 201919:91 -
Hi, I have some questions that I hope to get some answers to. First of all, I am not diagnosed and have not been tested for celiac. Only bloodtest I have taken that's relevant is Ferritin and Iron. I'm not anemic, but both my levels are on the lower range of normal (Ferritin 20-25 and Iron 9 and Iron binding capacity a bit over the normal range). My first question is if this is normal in celiacs, or would the Ferritin and Iron be lower if I was celiac? I eat meat and vegetables and my periods are normal. Second Question is related to abdominal pain. I have these IBS related pains (cramping before going to the bathroom) sometimes and also some bloating and stuff. But sometimes I get this lower abdominal pain that is different, it's much much worse when I press my stomach in or touch it. It almost feel normal when I sit still in one position, but when i lean forward, touch it or press it in, it's really bad. Does anyone else with celiac relate to this kind of abdominal pain? The reason I'm asking these questions is because I'm wondering if I should get tested for celiac. I've had symptoms for a while now, and I want to suggest different blood tests to my doctor. I have a feeling I should get tested for something autoimmune. There are already three different Autoimmune diseases in my mother's family (grandmother with psoriasis, cousin with diabetes, mother with ulcerus colitis), and I've been having diffuse symptoms for a while now, like abdominal pain, diarrhea, muscle/bone pain, some joint pain, muscles falling asleep, some tingling, anxiety, neck pain, fever feeling without fever, chills, fatigue (especially after lunch), bad hangovers etc etc. The list is long. So I'm just trying to get some answers so I can be more clear with my doc. Thanks! -
I was wondering if anyone is familiar with genetic test results. I was tested through Prometheus over a year ago due to many celiac symptoms. My test came back positive DQ2.2 and DQ2.5, putting me in their "very high" risk category. Because of these results, my doctor also ordered a genetics screening for my daughter, 10 at the time. Her results ended up being processed through Quest instead and had a very different type of report. It showed the following: HLA-DQ2 Negative HLA-DQ8 Negative HLA-DQA1* 02 HLA-DQA1* 02 HLA-DQB1* 0202 HLA-DQB1* 0202 According to the notations on the test results, she "did not have the HLA-DQ variants associated with celiac disease." I left it at that thinking she could not develop celiac. Fast forward a year and she began developing symptoms - stomach aches that became more and more frequent and reflux after meals with throat clearing and coughing. I looked at these results again, and this is when I noticed the variations that showed positive. I wish I understood genetics more, but I did some research and discovered that these haplotypes form the DQ2.2 gene. Is this correct? If so, I've read studies indicating that being homozygous for DQ2.2 puts you at a moderate risk for celiac - not "no risk." I've also ran her raw DNA through several sites which show she carries genes that put her at risk for celiac. I'm trying to piece all of this together. Am I missing something here? It should be noted that I've since had to go gluten-free, and my husband later did. We've both had dramatic health improvements since. We are seeing her functional MD for this, and also have an appointment with a pediatric GI. Her one doctor reordered tests for both genetics and antibodies and told me I could go through Prometheus with it. It's my understanding that Prometheus offers a more comprehensive genetics screening. -
Hello all! I'm fairly new to this community. Although I've been reading many posts on here for a while, this is only my second posting! I am pre-diagnosis, although I am almost 100% certain that I am at least gluten sensitive. Due to time, I'll make another post later on detailing more of my symptoms and my experiences on this crazy journey. Currently on a gluten-free diet because it is not worth the suffering (cheated enough times that now just looking at a cookie makes my everything hurt). This question is more towards anybody who has a good understanding of genes, alleles, etc. I have finally coughed up the dough to get genetic testing done, and my alleles are HLA-DQ 8 and HLA-DQ 3. To my very elementary understanding, HLA-DQ 8 is one of the two HLA genes associated with the development of celiac disease. There is also some controversial and currently unreplicated data suggesting that HLA-DQ 3 is associated with gluten sensitivity. Regardless of that controversial piece, it is also my understanding that HLA-DQ 8 is a "form" of the HLA-3 allele. If HLA-DQ 8 is a form of HLA-DQ 3, what is the difference between HLA-DQ 3 and HLA-DQ 8, that I have both of them? In other words, what makes it HLA-DQ 3, instead of one of its sub-categories or forms? Not sure if the question makes sense, or if anybody knows! Thanks for any info!!
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