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  1. 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!
  2. 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.
  3. 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!!
  4. Celiac.com 05/31/2018 - Explaining the genetics of many diseases is challenging because most genetic associations occur in regulatory regions that just aren’t very well understood and documented. In an effort to provide better genetic information about certain regulatory regions, a team of researchers recently used new computational methods to demonstrate that transcription factors (TFs) occupy multiple loci associated with individual complex genetic disorders. Their work has important implications for celiac disease, and numerous other medical disorders. The research team included John B. Harley, Xiaoting Chen, Mario Pujato, Daniel Miller, Avery Maddox, Carmy Forney, Albert F. Magnusen, Arthur Lynch, Kashish Chetal, Masashi Yukawa, Artem Barski, Nathan Salomonis, Kenneth M. Kaufman, Leah C. Kottyan and Matthew T. Weirauch. They are variously affiliated with the Center for Autoimmune Genomics and Etiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA; the Division of Immunobiology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA; the Division of Developmental Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA; the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA; US the Department of Veterans Affairs Medical Center, Cincinnati, OH, USA; the Division of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA; the Division of Allergy & Immunology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA; and the Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA. The group conducted an assessment of 213 phenotypes and 1,544 TF binding datasets that identified 2,264 relationships between hundreds of TFs and 94 phenotypes, including androgen receptor in prostate cancer and GATA3 in breast cancer. In one interesting finding, the team noted that the gene loci for systemic lupus erythematosus risk are occupied by the Epstein–Barr virus EBNA2 protein, along with many co-clustering human TFs, which suggests gene–environment interaction. Similar EBNA2-anchored connections are seen in multiple sclerosis, rheumatoid arthritis, inflammatory bowel disease, type 1 diabetes, juvenile idiopathic arthritis and celiac disease. Allele-dependent DNA binding and downstream effects on gene expression support genetic mechanisms dependent on EBNA2. These results indicate that such mechanisms are operating across risk loci within disease phenotypes, which offers a new hypothesis for the origins of numerous diseases, including celiac disease. Such complex gene–environment interactions may help explain the origins of numerous autoimmune diseases. Specifically, Epstein–Barr virus (EBV) infection is associated with the autoimmune mechanisms and epidemiology of systemic lupus erythematosus (SLE), increasing SLE risk by as much as 50-fold in children. Despite strong associations between EBV and multiple autoimmune diseases, the underlying molecular mechanics are not understood. That said, genome-wide association studies (GWAS) have identified more than 50 possible European-ancestry SLE susceptibility loci, offering strong support for germline DNA polymorphisms altering SLE risk. The team’s analyses found strong connections with an EBV gene product (EBNA2), offering a potential origin of gene–environment interaction, along with a set of human transcription factors and cofactors (TFs), in SLE and six other auto-immune diseases. The team presents allele- and EBV-dependent TF binding interactions and gene expressions that nominate cell types, molecular agents and environmental factors to disease mechanisms for more than 85 diseases and physiological phenotypes. The team’s analysis suggest that numerous causal autoimmune combinations may act through allele-dependent binding of these proteins, altering downstream gene expression. These results offer promise for the development of future therapies for manipulating the action of these proteins in individuals harboring risk alleles at EBNA2-bound loci. The team’s current current data point to particular TFs and cell types for 94 phenotypes, offering ways to verify, via experiment and exploration, the potential molecular and cellular origins of disease risk, potentially including celiac disease. As new genetic association and TF binding data are collected, approaches such as this will undoubtedly identify additional disease mechanisms. As researchers gain an understanding of the genetics behind the origins of numerous diseases, look for them to make progress on new methods of testing, diagnosis and treatment of many of these conditions. Source: NATURE GENETICS | VOL 50 | MAY 2018 | 699–707
  5. Celiac.com 05/22/2018 - Proteins are the building blocks of life. If scientists can figure out how to create and grow new proteins, they can create new treatments and cures to a multitude of medical, biological and even environmental conditions. For a couple of decades now, scientists have been searching for a biological Rosetta stone that would allow them to engineer proteins with precision, but the problem has remained dauntingly complex. Researchers had a pretty good understanding of the very simple way that the linear chemical code carried by strands of DNA translates into strings of amino acids in proteins. But, one of the main problems in protein engineering has to do with the way proteins fold into their various three-dimensional structures. Until recently, no one has been able to decipher the rules that will predict how proteins fold into those three-dimensional structures. So even if researchers were somehow able to design a protein with the right shape for a given job, they wouldn’t know how to go about making it from protein’s building blocks, the amino acids. But now, scientists like William DeGrado, a chemist at the University of California, San Francisco, and David Baker, director for the Institute for Protein Design at the University of Washington, say that designing proteins will become at least as important as manipulating DNA has been in the past couple of decades. After making slow, but incremental progress over the years, scientists have improved their ability to decipher the complex language of protein shapes. Among other things, they’ve gained a better understanding of how then the laws of physics cause the proteins to snap into folded origami-like structures based on the ways amino acids are attracted or repelled by others many places down the chain. It is this new ability to decipher the complex language of protein shapes that has fueled their progress. UCSF’s DeGrado is using these new breakthroughs to search for new medicines that will be more stable, both on the shelf and in the body. He is also looking for new ways to treat Alzheimer’s disease and similar neurological conditions, which result when brain proteins fold incorrectly and create toxic deposits. Meanwhile, Baker’s is working on a single vaccine that would protect against all strains of the influenza virus, along with a method for breaking down the gluten proteins in wheat, which could help to generate new treatments for people with celiac disease. With new computing power, look for progress on the understanding, design, and construction of brain proteins. As understanding, design and construction improve, look for brain proteins to play a major role in disease research and treatment. This is all great news for people looking to improve our understanding and treatment of celiac disease. Source: Bloomberg.com
  6. Celiac.com 05/10/2018 - Most people who suffer from inflammatory bowel diseases (IBD) have either Crohn’s disease or ulcerative colitis. Some research has suggested that patients with Crohn's disease have an altered response to vitamin D, among other issues. The exact mechanism behind this is not well understood. To get a better picture of the problem, a team of researchers recently set out to investigate disease-specific gene expression profiles of peripheral blood mononuclear cells (PBMCs) from Crohn’s disease patients in clinical remission. The research team included Holger Schäffler, Maria Rohde, Sarah Rohde, Astrid Huth, Nicole Gittel, Hannes Hollborn, Dirk Koczan, Änne Glass, Georg Lamprecht, and Robert Jaster, with the Department of Medicine II, Division of Gastroenterology, Rostock University Medical Center in Rostock, Germany. The team began by genotyping patients with Crohn's disease in clinical remission or with very low disease activity according to nucleotide-binding oligomerization domain 2 (NOD2), and PBMCs from wild-type (WT)-NOD2 patients, and patients with homozygous or heterozygous NOD2 mutations. Meanwhile the team isolated healthy donors for further analysis. The team then cultured the cells with vitamin D, peptidoglycan (PGN) and lipopolysaccharide (LPS) for defined periods of time before RNA was isolated and subjected to microarray analysis using Clariom S assays and quantitative real-time PCR. They assessed the NOD2- and disease-specific gene expression profiles with repeated measure ANOVA using a general linear model. The team used microarray assays to find 267 genes that were significantly up- or downregulated in PBMCs of WT-NOD2 patients, compared to healthy donors after challenge with vitamin D and/or a combination of LPS and PGN (P < 0.05; threshold: ≥ 2-fold change). For further analysis by real-time PCR, the team selected genes with known impact on inflammation and immunity that fulfilled predefined expression criteria. In a larger group of patients and controls, the team found a disease-associated expression pattern, with higher transcript levels in vitamin D-treated PBMCs from patients, in three of these genes, CLEC5A (P < 0.030), lysozyme (LYZ; P < 0.047) and TREM1 (P < 0.023). The team found six genes that were expressed in a NOD2-dependent manner (Crohn's disease101, P < 0.002; CLEC5A, P < 0.020; CXCL5, P < 0.009; IL-24, P < 0.044; ITGB2, P < 0.041; LYZ, P < 0.042). Interestingly, the team saw the highest transcript levels in patients with heterozygous NOD2 mutations. This study identifies CLEC5A and LYZ as Crohn's disease- and NOD2-associated genes of PBMCs and supports the need for further studies on their pathomechanistic roles. The team found that PBMCs of patients with Crohn's disease display alterations in their response to vitamin D and PAMPs. Disease-associated and NOD2-dependent gene expression profiles are preserved even during clinical remission. The team’s data identifies CLEC5A, LYZ and TREM1 as good candidates for follow-up study. The researchers propose that these genes may act in a common network relevant to celiac disease development. The research team remains committed to the longterm goal of biomarkers to that will accurately predict the clinical course of celiac disease. Source: World J Gastroenterol. 2018 Mar 21; 24(11): 1196–1205. doi: 10.3748/wjg.v24.i11.1196
  7. Why did I call this post “Time for a Vitamin Reformation”? I see this a lot. So I wanted to write more about it. I share/write these posterboy blog post’s so that others might not have to suffer the same things’ I have. As always I hope you find it helpful to learn how/what someone else did to help their own selves in this journey/road we all walk/or have walked on as a Celiac Disease/NCGS patient. I know this post is way too long (again) as usual but I had a lot of ground to cover. So hang on if you can and will and if you have an interest in learning how I became the posterboy for Celiac and Pellagra. Learn from my mistakes! Quoting the Celiac and now Pellagra Posterboy “No man is so dumb as the man/woman who won’t learn from other people’s mistakes.” I have made too many (mistakes) to count. Take as much honey (knowledge) as you can from my mistakes so bad (lack of knowledge) health will not sting your quality of life. Is it any wonder God’s promised’ land was described as a land flowing with milk and honey? Where knowledge (truth) flows there is health of mind and body. Truth of the right diagnosis can free us from the error of a wrong diagnosis. SADLY! Few listen. But some (Pellagrins’) who have received a Celiac diagnosis co-morbid have heard (listened to) the good news that Pellagra is reversible (when it is mimicking Celiac disease in a clinical setting) and have gotten better. Don’t be the Last! Tell others! So again Why did I call this post “Time for a Vitamin Reformation”? Most people (in the US anyway if you are reading this in some other country) are aware of the Protestant Reformation but most people are not as aware of the Catholic Reformation. Where basically the Catholic’s got smart? If you will and said all these Protestant’s are writing books (fresh off the invention of Gutenberg’s printing press (the internet of their day)) and the Catholic church said let us start printing our own books about how great the Catholic church is plus some minor changes essentially stopped the reformation in it’s tracks. And today there is still 1 Billion (with a Bee Catholics in this world. (I am not against either by the way) this is only by the way of illustration. I had recently wrote a blog post about this why Supplementation wins the War but I wanted to take another stab at it again. And even though I will have only used Vitamin(s) in this post. I want it to be clear this is for Vitamins and Minerals . . . like Iron, Magnesium, Calcium etc. It is just easier to type/write colloquially to use Vitamins to stand in for both Vitamins and Minerals together. See any of my comments or Ennis_Tx’s about Magnesium taken as Magnesium Citrate or Magnesium Glycinate. And why it is easy for the Protestant’s to claim a victory of sorts (there are Protestants still right) it is a pyrrhic victory at best because according to answers.com Catholics outnumber Protestant’s 2 to 1. https://answers.yahoo.com/question/index?qid=20070213184757AAHuhGz If you don’t still don’t believe me visit some of the old Cathedral’s of Europe you guessed it nearly all of them are Catholic Cathedral’s. Back to our point about Vitamins needing a Reformation. Such is the reign of Genetics today we blame it (our Genes) for everything today. Yet new research indicates maybe less than 1/3 of cancer’s day has anything to with Genetics at all. http://www.foxnews.com/health/2015/01/02/study-concludes-that-many-cancers-caused-by-bad-luck-in-cell-division.html Why this research is old it highlights my point that lifestyle (nutrition/vitamins etc) can and do help prevent Cancer today even in this GENETIC age we live in. http://www.cbsnews.com/news/lifestyle-changes-can-prevent-40-of-cancers-study/ To quote them from cbsnews “”We didn’t expect to find that eating fruit and vegetables (VItamin rich foods my words) would prove to be so important in protecting men against cancer,” Parkin said in the statement. … “This adds to the now overwhelmingly strong evidence that our cancer risk is affected by our lifestyles,” Dr Rachel Thompson, deputy head of science for the World Cancer Research Fund, told The Guardian. “ We hope this study helps to raise awareness of the fact that cancer (sickness) is not simply a question of fate (it’s in our genes my words) and that people can make changes today that can reduce their risk of developing cancer in the future.” My point is we need to be saying. Nutrition (Vitamins’ make us healthy) and not let Genetics get all the credit these day’s this includes our GI health too! I believe. It is actually probably more true too realize/say the balance is 50/50 because stress/environment effect both our health and yes even Genes. I think of it in these terms. A Vitamin is a substance we need in a “Min”ium” amount without which we become sick. I understand completely there is a lot of confusion about this topic. I will provide you some of the sources that lead/helped me come to my conclusions. Dr Prousky’s research is what I based my conclusion’s on and helped me to realize my Celiac Disease with/where he concluded “Niacin treats digestive problems” could also be confused for Low Stomach Acid. http://www.yourhealthbase.com/database/a124b.htm This is the link to the abstract. I realized this was going to be a future post when I saw Ennis_Tx muse about this question in a previous thread. Digestion is a north south process and it begins to make much more sense when you begin to understand the stomach protects your Small Intestine and if your defense are low (low stomach acid) when it is commonly thought to be high invading proteins like lactose, soy, and gluten etc. get through. http://divinehealthfromtheinsideout.com/2012/03/digestion-101/ Try a low carb (i.e. and also gluten free) diet for about a month and see if you flare ups don’t improve I think you will find your trigger is gluten and carbs. If so this will work but you will have to come to this conclusion on your own. It took me 3 years of study to understand these things God being my help. 2 Timothy 2:7 “Consider what I say; and the Lord give thee understanding in all things” this included. If you are now taking an acid reducer/proton pump inhibitor (I can’t lie) there will be a transition period. They all have a wall effect (burning when stopped) that often lock people in to using them for years and years when they were only intended to be used for 6 weeks or less to let ulcer’s heal. Actually on the OTC kind people usually buy without a prescription. It is even less than that. Only 14 days is recommended. . . . not 14 months ++ as is so often the case for people when they begin an acid reducer. See the FDA box warning. https://www.fda.gov/drugs/drugsafety/ucm245011.htm It will take courage and conviction on your part to take a Vitamin when all you hear these days’ that the “average” person doesn’t need a Vitamin. (see link below about why all the hate for Celiac’ drug/medicine treatment?/ trials?) by Jefferson Adams which inspired my title. https://www.celiac.com/articles/24099/1/Why-All-the-Hate-for-Celiac-Disease-Drug-Treatments/Page1.html Or put another way why ‘all the hate” for Vitamins? these days” instead of “Time for a Vitamin Reformation” (though I believe it is. .. I am also convenienced) it will take another generation to realize Pellagra is now being diagnosed as Celiac disease today instead. It takes a generation to make a change unless there is Education. This posterboy blog post is about that education process/the things I have learned from studying this subject myself. Do not change any of your supplementation/medical regime unless you have consulted with a doctor. . . but I found it helped me. The ignorance of this fact that Pellagra can occur with/in/as part of a Celiac diagnosis is so strong that so much so the “average joe” won’t take a Vitamin for their health? Well an IBS/NGCS patient/ Celiac Patient is not the average patient. They are known to develop malabsorption syndromes and B Vitamins are known to help celiac patient’s why wouldn’t you at least try a B-Vitamin or B-Complex to see if could help your GI symptom’s. https://www.celiac.com/articles/21783/1/B-Vitamins-Beneficial-for-Celiacs-on-Gluten-Free-Diet/Page1.html (though this study does not include the effects of full spectrum B-complex) it would have been nice if it did. I ask again “Who’s Afraid of a B Vitamin” See my earlier posterboy blog post about this topic Or to ask it rhetorically why all the hate for Vitamins these day (reader)? Or you (reader) afraid of a Vitamin? Or have you been too (reader) taught to hate Vitamins? And it isn’t just Niacinamide by the way (which is the focus of this post) it is most B-Vitamins. See this article about how B-1 Thiamine can help reverse Kidney Damage in Type 2 Diabetes http://news.bbc.co.uk/2/hi/health/7796073.stm Entitled “Thiamine ‘reverses Kidney Damage’ in Type 2 Diabetes” As usual this research is almost 10 years old and doctor’s clinical practices have not caught on to this fact proven by research. Instead the standard reply is “you don’t need Vitamins” or at least the average person does not. People who have TD2 or Celiac disease should not be considered the average person. Let me say at this point. Why is this not on the front page of every newspaper in the US and the UK and the world. Here we have a Vitamin that reversed Kidney Damage but no one is talking about it. What is not considered or well understood that these same vitamins that can help these patients – a deficiency in these same vitamins can also cause these same symptom’s. http://glutenfreeworks.com/blog/2010/06/23/niacin-vitamin-b3-deficiency-in-celiac-disease/ Now back to Niacinamide for a few minutes. What if had a Vitamin that was known to treat GI problems? We do but clinical practice has not yet again caught up with the research. That is why Prousky’s research is so ground breaking and misunderstood because the same vitamin (commonly misunderstood) associated with these problems has been proven to help the same problems it (Vitamin B3) has been thought to cause … though not commonly (well) understood Niacin treats digestive problems. http://www.yourhealthbase.com/database/a124b.htm *****I must say at this point this is not medical advice only my experience with Niacinmaide See my previous posterboy blog post about how the average clinical delay is 17 years in implementing new research into doctor’s protocols’/treatment regimens. This clinical gap is a devastating delay. And also I want to make this disclaimer. The default (thought) here is you are not taking Niacin or any version of B-3 (in its many forms) or have either not taken it for Cholesterol management previously or are now taking it for your GI problems. If you are now taking Niacinamide/Niacin etc. this post does/is not directed at you (or other Vitamins/Minerals) for that matter . . . like Magnesium or Iron etc. Also see my posterblog post about how supplementing can help you fight a two front war. Any Vitamin or Mineral can be taken to excess . . . contributing to a worsening of your conditon.. . including Niacinamide, Iron, Calcium etc. This comment/thread is directed to those who have not yet considered supplementation previously. And with the intent you will only take this for a cycle of time. Say 4 to 6months for most people or 6 to 12 months max for the most severe forms of this disease. See this link where it explains how “up to 12 months” B-Vitamins helps improved/improves moods for those who are depressed. https://www.ncbi.nlm.nih.gov/pubmed/7477807 Reader, Do some of the research of I have listed here and if you still feel the same way. I get it. I have been on that same journey. But this is not as uncommon or unplausible as it might sound. The “House TV” show/medical drama noted this fact in their episode on Celiac Disease. Google House season 2 episode 22 on Celiac disease entilted “Forever” and you will find articles about it and probably a link to watch it. I think it would be enlightening to see how these two diseases are entangled like Siamese twins. When digestion works properly the God given burp is produced (not soda’s) but you burp like a healthy child at 6 months of age so too will an adult when they take Niacinamide (the nonflushing form of Vitamin B-3) for 6 months 2/day (especially if you are not taking PPIs currently). Your results might be different but you won’t know unless you try it. When I began my journey I was/became known as the posterboy for Celiac disease. What it has turned into unexpectedly is me being/becoming the posterboy for Pellagra too! It (Pellagra in Celiac’s) is not as rare as people think it is today especially 2ndary Pellagra caused by your original Celiac diagnosis since Vitamin absorption is frequently compromised in Celiac’s. I always have to say. **** This is not medical advice and should not be considered such. Results may vary. Always consult your doctor before making any changes to your medical regimen. But I have found (and my friends have found) if you take it (Niacinamide) like an antibiotic (UNTIL BURPING) then 95% of your GI stress will be in remission. And I don’t mean twenty minutes after you have eaten but 2+ hours later when burping has replaced burping and bloating that start’s almost as soon as you take you first bite. Or burping that occurs with drinking soda or a carbonated drink. Again I say 2 Timothy 2:7 “Consider what I say; and the Lord give thee understanding in all things” I hope this is helpful. Posterboy by the Grace of God, That is all for now until the next post. (Whenever that is) but the intent of this/theses post’s is “Too Educate” and anyone of my posterboy blog posts could help you without the need to read all my posterboy blog posts??? So I am sorry if I run a little long some times. . . but people need to know if this is the only blog post they read. . . Pellagra in Celiac’s can be successfully treated with supplementation or AKA a Vitamin Reformation (in the way we think) about GI problems according to Prousky who almost 17 years ago proved Niacinamide can help those with low stomach acid misdiagnosed. Will you listen? and take the Niacinamide Challenge taking it until you are burping 2 hours after you finish a meal. This usually takes 3 to 4 months taken it 3/day or morning and evening and (one hour before) bedtime (if it is not convenient to bring to work) works well for most people. This tends to be one 300 count bottle for most people. Though a smaller amount might work I want you to have a positive experience and thus recommend conservatively a 3 month to 4 month cycle – the amount your body can typically store in your liver – thus helping to reset your body’s stress clock (my words). This schedule works well for Magnesium as well. . . and usually it (Magnesium Citrate/Glycinate) causes restful dreaming in the first month of taking it. The power to change is in your hand for “To Educate is to Free” As always 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 medical regimen. But I have found (and friends have found) if you take it (Niacinamide) like an antibiotic (UNTIL BURPING) then 95% of your GI stress will be in remission. It is time for a Vitamin Reformation (a change in the way we think about Vitamins – a shift in our paradigm) praise bee to God! Back to when in the 20th century they understood Vitamins make us healthy! They even gave Nobel Prizes for discovering these substances called Vitamin(s) and rightly so! If this is the case for you – you the reader also have/had developed 2ndary Pellagra due to your primary diagnosis of Celiac disease. See my earlier posterboy blog post where I talked about my experience of developing Pellagra 2ndarly to my Celiac diagnosis. All those who have ears to hear may they listen! Feel free to read all my posterboy blog post’s if this pique’s your curiosity/interest but there is only so much in a/one blog post than can be explained but it really Is not necessary or visit the website/blog in my profile where I have told the same story hundreds of time that ONE fellow sufferer like myself may/might be helped by the same wisdom, I found God being my help, when I learned Pellagra and Celiac disease are Siamese twins and separating one (supplementing one to death) will kill the other (cause the other to go into remission). Also see my posterboy blog post of how I supplemented Pellagra to death/into remission. Noted above (earlier) in this post but provided here again for easy reference. And I believe you can too! Praise bee to God! 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 (fellow sufferer) which are in any trouble, by the comfort wherewith we ourselves are comforted of God.” Posterboy by the Grace of God, 2 Timothy 2:7 “Consider what I say; and the Lord give thee understanding in all things” this included. As always it is in this spirit of truth that I share so that others like my-self might not have to suffer the same things I did.
  8. Dr. Scot Lewey

    Celiac Disease Genetics

    This article appeared in the Spring 2008 edition of Celiac.com's Scott-Free Newsletter. Celiac.com 08/17/2008 - 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 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 pre-authorization. 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, www.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.
  9. Celiac.com 02/24/2017 - Have wheat and gluten changed over time? Is the wheat we consume today substantially different to the wheat we ate fifty or one-hundred years ago? These are interesting questions that have invited a good deal of speculation, but so far, at least, no good answers. Dr. Chris Miller, a former faculty member at Kansas State University in Grain Science and Industry, now the director of wheat quality research at Heartland Plant Innovations, is working on a project that could allow people with celiac disease to safely consume wheat. As part of that project, Dr. Miller is studying different wheat varieties from the Kansas State University breeding program. So far, he has examined 50 Hard Red Winter wheat lines, which include current commercial varieties, older varieties once common, but rarely planted today, and wild relatives of wheat. "With these different varieties we can get a broad understanding of how genetics change over time, or if they have changed through our breeding selection," Miller says. Miller and his colleagues started by characterizing the varieties' traits from the field all the way through their protein characterization, their genetic makeup (which involves the plants' genotypes), end-product testing (which examines the plants' milling and baking qualities), and health and nutrition attributes. Eventually, they hope to have good data on all of the wheat varieties in the study. This is exploratory research, says Aaron Harries, Vice President of Research and Operations at Kansas Wheat, "We're not sure what we are going to find." They hope their preliminary research data will help them toward their main goal of helping people with celiac disease be able to consume wheat products without any digestion problems. "This is a study that's focused for the good of all human health. We're doing research here that they aren't doing anywhere else," Jordan Hildebrand, program assistant at Kansas Wheat, said. "The fact that Kansas wheat farmers took the initiative to fund the research showed their foresight and their desire to deliver a wholesome product for everyone who wants to have their bread and eat it too." Stay tuned for developments on this and related stories. Source: Midwestproducer.com
  10. Hello, everyone, this is my first time posting in the forums, but I have found so much useful information on celiac.com that I feel confident in asking for help. I have been a long time sufferer of IBS-D, but my GI doctor wanted to test for celiac because I have so many symptoms of the disease, and my flare ups are almost completely under control when I'm on a gluten-free diet. I had a celiac genetics test done through Quest, which was sent out to UCLA, and the results are a bit confusing: Locus DNA Typing Result NMDP Code Comments Allele Allele DQB1* 03 06 03:ACBGS 06:ABXCF High risk antigen HLA-DQ2 ABSENT High risk antigen HLA-DQ8 ABSENT DQA1* 01 02:01 01:ARSW 02:01 I can see that I was negative for DQ2 & DQ8, which most likely means it's not celiac, but I am interested to know if I might have any of the other antigens that may indicate gluten sensitivity (DQ1, etc.) I did have a blood test done prior to this, which was negative, but also showed I was IGA deficient so my doctor said it was no good. For that test I had to do a gluten challenge for 6 weeks because I had been on a gluten-free diet. I went back on the gluten-free diet after the blood test so there is really nothing else that can be done at this point. I am fine not being diagnosed with celiac or gluten sensitivity. I know how luten makes me feel, and after 30+ years of suffering I am so relieved to find a simple solution that works for me! I do have children with GI issues, though, so having any information to help them would be fantastic. If anyone can make sense of the alleles in this lab result, I really appreciate it. Thanks!
  11. My son Z was dx with celiac at age 12 months, in May 2011. Though he didn't have symptoms, I had a blood test done for my other biological son R, who was 4 at the time (test was negative). I have a number of symptoms on the "list" (IBS, iron deficiency anemia, underweight, unexplained fertility problems, etc.), but my blood test was also negative. (Same thing for DH, who has a somewhat different list of possible symptoms.) None of us have had genetic testing (and we have no other family members with a celiac dx). Fast forward three and a half years. R (now age 7) is having recurrent abdominal pains, constipation, and occasional severe joint pain (in his knees) that were attributed to "growing pains." I know that while there is a genetic component to celiac disease, it's thought to be an acquired disorder. So should family members be retested periodically? Only if there are symptoms? How often for kids and how often for adults? I also have a 7-month-old now. Assuming she doesn't develop noticeable symptoms, when should she be tested?
  12. I posted in the babies/kids section, but I thought this could go here because genetics don't change with age! My son is six and we think he has multiple Celiac symptoms. His ttIG was low, so his GI wanted to drop the Celiac idea. We persisted and he decided to check him for the gene. I also looked at all of his old blood work and found a ttIG from Feb. Gene results are as follows: HLA Class II, Locus DQB*, Allele 1 02:01 Results: Positive for HLA-DQA*05 and HLA-DQB*02 alleles HLA Class II, Locus DQB*, Allele 2 05:01 Patient has the HLA-DQ2 antigen, but does not have the HLA-DQB antigen HLA_DQB Genotyping Interpretation If less than 2 alleles are reported for a locus , the patient is likely homozygous. I am wondering if he has copies of the gene from both of us based on his results. I don't really understand the Allele 2 part of it. I also found out his overall IgA had gone from 71 to 59 since Feb. and his ttIG went from .8 to 2.6. I thought his overall IgA should be going up since he is growing! I feel like I am really going to have to work on his GI for a diagnosis and need all the back up info I can get. Thanks in advance. This site is amazing! Jess
  13. This article appeared in the Summer 2006 edition of Celiac.coms Scott-Free Newsletter. Celiac.com 08/31/2006 - All of us have patterns of proteins on the surface of our white blood cells. These proteins are known as human leukocyte antigens (HLA), one of which is DQ. Celiac disease and non-celiac gluten sensitivity (NCGS), and several autoimmune conditions occur more frequently with certain HLA DQ types. DQ gene testing is performed by analyzing cells from a blood sample or from a Q-tip swab of the mouth. HLA types have a naming system that can be confusing even to scientists and physicians but here is my explanation of the testing, the results, and what they may mean to you and your family. Each of us has two copies of HLA DQ. Because there are 9 serotypes of DQ we are all DQx/DQx where x is a number between 1 & 9. For example, I am DQ2/DQ7. I received the DQ2 from one of my parents and the DQ7 from the other. Because we get one DQ type from each of our parents and give one to each of our children it is easy to to see how the DQ genes pass through a family. This is important because two DQ types, DQ2 and DQ8, are estimated to be present in over 98% of all people who have celiac disease, the most severe form of gluten sensitivity. Rarely, true celiac disease or dermatitis herpetiformis, the skin disease equivalent of celiac, have been reported to occur in people who do not have DQ2 and/or DQ8. However, according to unpublished data from Dr. Ken Fine of Enterolab, the other six types, except DQ4, are associated with risk for elevated stool antibodies to gliadin, the toxic fraction of gluten, and/or tissue transglutaminase (tTG) an enzyme. Both of these antibodies are usually elevated in the blood of individuals with celiac disease though they may be normal in the blood of individuals who are gluten sensitive and have a normal small intestine biopsy but respond favorably to a gluten-free diet. Fine has publicly reported that elevated stool antibodies to gliadin and/or tTG have been detected in all of the untreated celiacs tested in his lab and 60% of non-celiacs who have symptoms consistent with gluten sensitivity but in none of the controls tested including cow manure. Follow up surveys of those individuals with elevated stool antibodies who initiated a gluten-free diet compared with those with elevated antibodies who did not reportedly showed significantly improved quality of life and improved symptoms in the gluten-free group. He also reported DQ2 and DQ8 positive individuals have had, as a rule, the highest elevations of stool gliadin antibody followed by those who are DQ7 positive. Only those who are doubly positive for DQ4 have not been found to have significantly elevated antibodies to indicated gluten sensitivity. This is consistent with the differences in prevalence rates of celiac disease seen in various parts of the world since DQ4 is not generally found in Caucasians of Northern European ancestry where celiac incidence is highest but in those from Asia or Southern Africa where there is a very low incidence of celiac disease and gluten intolerance. DQ2 & DQ8, the two major types present in 90-99% of people who have celiac disease, are present in approximately 35-45% of people in the U.S., especially those of Caucasian race of Northern European ancestry, with highest risk of celiac disease but the prevalence in U.S. of celiac disease is 1%. Though a prevalence of 1 in 100 is very common and much higher than had been believed for years, only a fraction of the genetically at risk are confirmed to have celiac disease by abnormal blood tests and small intestine biopsies. However, the number of people who report a positive response to gluten-free diet is much higher. The stool antibody tests results would support this and the concept of a spectrum of gluten sensitivity that is much broader and in need of better diagnostic definitions. I am an example of someone who is DQ2/DQ7 who has normal blood tests for celiac disease but abnormal stool antibody tests and symptoms that responded to gluten-free diet. The strict criteria for diagnosing celiac disease, which is abnormal blood tests and a characteristic small intestine biopsy showing classic damage from gluten, is much narrower than what is being seen clinically. It is becoming obvious to many of us who have personal and professional medical experience with gluten intolerance and celiac disease that the problem of gluten sensitivity is much greater and extends beyond the high risk celiac genes DQ2 and DQ8. Traditionally it is reported and believed by many that if you are DQ2 and DQ8 negative you are unlikely to have celiac disease or ever develop it, though this cannot be said with 100% certainty especially since there are documented cases of celiac disease and the skin equivalent of celiac disease, known as dermatitis herpetiformis (DH) in individuals who are DQ2 and DQ8 negative. Therefore, knowing your DQ specific serotype pattern may be helpful for several reasons. For example, if you have more than one copy of DQ2 or DQ8, you carry two of the major genes. For example, if you are DQ2/DQ2, DQ2/DQ8, or DQ8/DQ8, a term Scott Adams of www.celiac.com has dubbed a "super celiac" you may be at much higher risk for celiac disease and have more severe gluten sensitivity. Certainly if you are DQ2 and/or DQ8 positive you are at increased risk for celiac disease. After a single copy of DQ2 or DQ8, it appears that DQ7/DQ7 might be next highest risk. Dr. Fine has also noted some other associations of the DQ patterns with microscopic or collagenous colitis, neurologic manifestations of gluten sensitivity and dermatitis herpetiformis, which has been one of the gluten sensitive conditions noted to be, at times, occurring in DQ2, DQ8 negative individuals. Why some people get celiac Disease or become gluten sensitive is not well understood but certain factors are believed to 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. non-steroidal anti-inflammatory medications such as aspirin, ibuprofen, etc., immune suppression or autoimmune diseases especially since several of those factors are associated with onset or unmasking of gluten sensitivity in someone who is at risk or not manifesting any recognizable symptoms. There is also well known group of individuals who are termed "latent" celiacs. They are at high risk because they have close relatives who have celiac disease with whom they share one or more of the celiac genes DQ2 and/or DQ8 though they usually have few or no symptoms but sometimes have abnormal blood tests and/or biopsies indicating possible or definite celiac disease. Others have negative blood tests and normal biopsies but symptoms that respond to a gluten-free diet. The severity of the sensitivity to gluten appears to be related to the DQ type, family history (highest risk is in the non affected identical twin of a celiac), 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 reduce the increased risk of serious complications of undiagnosed and untreated celiac such as severe malabsorption, cancers, especially of the GI tract and lymphoma, other autoimmune diseases and premature death due to these complications. Again, DQ testing can be done with cells from blood or by a swab of the inside of the mouth but not all labs test for or report the full DQ typing but only the presence or absence of DQ2 and DQ8. The lab that performs DQ testing is usually determined by an individual insurance company on the basis of contracts with specific commercial labs. However, if your insurance contracts with Quest Labs or the Laboratory at Bonfils (Denver, CO) full DQ can be done if ordered and authorized by the insurance company. For those willing to pay out of pocket, Bonfils performs full DQ testing for Enterolab (www.enterolab.com) on a sample obtained by a Q tip swab of the mouth. Since it is painless and non-invasive it is well tolerated especially by young children. Also because the testing can be ordered without a physician and the sample obtained in their home using a kit obtained from Enterolab it is convenient. The kit is returned by overnight delivery by to Enterolab who forwards the test onto Bonfils. The cost is $149 for the genetic testing alone and has to be paid for in advance by credit card or money order and is generally not reimbursed by insurance. Enterolab also provides the stool testing for gliadin and tissue transglutaminase antibodies to determine if gluten sensitivity is evident. The gliadin antibody alone is $99 or the full panel includes genetic typing, stool testing for gluten and cows milk protein antibodies, and a test for evidence of malabsorption is $349. Again, the advantages of full DQ testing is determining if someone has more than one copy of DQ2 or DQ8 or carry both and therefore have a higher risk for celiac disease or more severe gluten intolerance. If you are DQ2 or DQ8 negative then your risk of celiac disease is low, though not non-existent. If you are not DQ4/DQ4 then you do have risk for gluten sensitivity. If you determine all DQ types within enough family members you can piece together a very accurate history of the origin of celiac and gluten sensitivity within a family and make some very accurate predictions of risk to other family members. Though the lay public and many clinicians are finding the genetic tests helpful, many, including most physicians, do not understand the genetics of gluten sensitivity. We are awaiting Dr. Fines published data on the significance of stool antibody tests and their association to the other DQ types as his lab is the only lab offering the stool antibody tests in the U.S. Other celiac researchers in U.S. have failed to reproduce his assay but scattered reports in the literature are appearing including a recent article in the British Medical Journal indicating stool antibody testing is feasible, non-invasive, and using their protocol, highly specific but not sensitive for celiac disease in children. (Editors note: When present, these antibodies indicate celiac disease. However, they are not present in many cases of celiac disease.) In the meantime, many patients are faced with the uncertainty and added cost of full DQ testing and stool testing due to the failure of traditional blood tests, small bowel biopsies, and the presence or absence of DQ2 and DQ8 to diagnose or exclude gluten sensitivity. Physicians unfamiliar with this testing are increasingly presented with the results and confused or skeptical pending published reports. The medical community continues to lack a consensus regarding the definitions of non-celiac gluten sensitivity and what tests justify recommendations for gluten-free diet. It is clear that gluten sensitivity, by any criteria, is much more common than ever thought and a hidden epidemic exists. Dr. Scot Lewey is a physician who is specialty trained and board certified in the field of gastroenterology (diseases of the digestive system) who practices his specialty in Colorado. He is the physician advisor to the local celiac Sprue support group and is a published author and researcher who is developing a web based educational program for people suffering from food intolerances, www.thefooddoc.com Article Source: EzineArticles.com
  14. If you would like to learn more about celiac disease genetic testing, or read about my personal experience with Kimball Genetics, be sure to read the following two related articles: Your DNA Results Indicate: Super Celiac! By Scott Adams Understanding the Genetics of Gluten Sensitivity by Dr. Scot Lewey Celiac.com 11/29/2006 - Kimball Genetics, Inc. announces its participation this week at the XII International Celiac Disease Symposium in New York City and its support of the Celiac Disease Center at Columbia University. Kimball Genetics has a strong commitment to celiac disease education and genetic testing for this common, chronic, autoimmune disorder. Celiac disease affects approximately 1% of the U.S. population but is highly underdiagnosed, with less than 10% of cases currently detected. In genetically susceptible individuals with the specific markers HLA-DQ2 and HLA-DQ8, ingestion of gluten-containing grains causes inflammation of the small intestine and leads to malabsorption. Symptoms may be gastrointestinal and/or a wide range of other multi-systemic manifestations such as iron-deficiency anemia, chronic fatigue, osteoporosis, dermatitis herpetiformis, and attention-deficit/hyperactivity disorder. Early diagnosis and lifelong treatment with a gluten-free diet is critical to relieve inflammation and symptoms and to reduce the risk for development of secondary autoimmune disorders such as type 1 diabetes. Silent celiac disease, involving inflammation without symptoms, is also important to detect and treat. Kimball Genetics offers the Celiac Disease DNA Test, a genetic test with increasingly recognized importance in the diagnostic work-up of celiac disease. The test is valuable because it excludes the diagnosis of celiac disease in patients with a negative result, detects family members at risk for the disorder, and is accurate even when the patient is on a gluten-free diet. Both antibody testing and small bowel biopsy require going off a gluten-free diet to gain reliable results if the patient initiated the diet before diagnosis. Kimball Genetics is the only laboratory presently offering celiac disease DNA testing on cheek cell specimens with results available in one day. Dr. Peter Green of the Celiac Disease Center at Columbia University says "Cheek cell testing at Kimball Genetics is convenient and tremendously popular with my patients since it eliminates the need for blood draw. The one-day turnaround time and expert genetic counseling provided with Kimballs service are much appreciated." The Celiac Disease Foundation also recommends Kimball Genetics Celiac Disease DNA test due to these unique features of its service. In concurrence with the National Institute of Healths "Celiac Disease Campaign for Health Care Providers and Public," Kimball Genetics, Inc. conducts ongoing educational efforts including presentations to gastroenterologists, family practitioners, nautropaths, chiropractors, and nutritionists, and assists national celiac support groups. Dr. Annette Taylor and genetic counselors from Kimball have written an in depth review about celiac disease, co-authored by Dr. Peter Green, soon to be published in GeneReviews online. In addition, Kimball Genetics is collaborating with Drs. Xavier Castellanos and Dominick Auciello from New York University Child Study Center and Dr. Peter Green from Columbia University on an exciting new research study to determine the incidence of celiac disease in children with attention-deficit/hyperactivity disorder (ADHD) or learning disabilities. About Kimball Genetics, Inc. Founded in 1994 by Annette K. Taylor, M.S., Ph.D., Kimball Genetics is a national DNA diagnostic laboratory specializing in testing for common genetic disorders that are preventable or can be treated. Known for its unparalleled turnaround time and distinctive focus on genetic counseling and education, the company has a major focus on celiac disease and is at the forefront of education and testing for this disorder. Other major areas of testing currently include inherited hypercoagulability, hemochromatosis, cystic fibrosis, and fragile X syndrome. Soon Kimball will be expanding into pharmocogenomic testing which allows for the personal customization of drug therapy.
  15. Celiac.com 03/04/2004 - Kimball Genetics is pleased to announce availability of the One-Day Celiac Disease DNA Test for cheek cell specimens in addition to blood. Cheek cell specimens are popular with both patients and physicians because they eliminate the need for a blood draw and are convenient to collect and ship. Kimball Genetics unique ability to perform celiac disease testing on cheek cells enables direct-to-consumer marketing of this service. Celiac disease is a chronic, autoimmune, gastrointestinal disorder. In genetically susceptible individuals, ingestion of gluten-containing grains, especially wheat, causes inflammation of the small intestine mucosa and leads to malabsorption. Long believed to be a rare disorder, celiac disease is now known to be one of the most common, under-diagnosed diseases, affecting 1:120-1:300 individuals in European and North American populations. Early detection through antibody and genetic testing and subsequent elimination of gluten from the diet is essential in aiding prevention and treatment. Due to the extremely variable presentation of disease symptoms and severity, diagnosing celiac disease is difficult. Antiendomysial and tissue transglutaminase antibody test results can be equivocal depending upon diet adherence and stage of disease. Kimball Genetics One-Day Celiac Disease DNA Test is a reliable and critical tool for accurately diagnosing celiac disease. Kimball Genetics One-Day Celiac Disease DNA Test includes highest accuracy of testing, one-day turnaround time, detailed test reports, free genetic counseling for physicians and patients, and excellent personal service For more information about the Celiac Disease DNA Test, please contact Juli Murphy, M.S. at (800) 320-1807 or at jamurphy@kimballgenetics.com. About Kimball Genetics, Inc. Kimball Genetics, Inc., is an independent genetic testing laboratory with a national reputation for combining the highest accuracy of testing with unparalleled turnaround time and excellent personal service. Founded in 1994 by Annette K. Taylor, M.S., Ph.D., Kimball Genetics has distinguished itself from other molecular diagnostic labs by its one-day turnaround time and unique emphasis on genetic counseling and education. For: Kimball Genetics, Inc., 101 University Blvd., Suite 350, Denver, CO 80206 Contact: Juli Murphy, M.S., (800) 320-1807