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  1. Celiac.com 02/22/2019 - Celiac disease, an autoimmune reaction caused by exposure to gluten, a protein found in wheat, barley, and rye, is estimated to affect one in a hundred Americans, however, only three percent of the celiac population has yet been properly diagnosed. The diagnostic process usually requires several tests, including antibody blood tests and a biopsy of the small intestine. Antibody testing is usually the first step, and positive biopsy results are required for the diagnosis of celiac disease, while genetic testing is often used as a preliminary test to determine whether an individual is at risk of developing celiac disease. Studies are showing, however, that celiac genetic test results may not always be accurate. According to the University of Chicago Celiac Disease Center, genetic testing has a couple of uses. After an individual tests positive for the disease, his relatives can be given the genetic test in order to determine if they are at risk of developing the disease later on. Secondly, it is used to help diagnose individuals who are already on a gluten-free diet, for whom an intestinal biopsy would be useless because there would be no damage to assess without gluten exposure. Genetic tests for celiac disease are easy to administer, using either blood or mouth swab samples, but the testing, usually ordered through a gastroenterologist, can be expensive. Home testing is also available now from many online sites. In celiac genetic testing, the DQ genetic patterns DQ2 and DQ8 are sought. The genetic test can indicate not only the risk of developing the disease, but also how severe it is, depending on which DQ types turn up and the number of copies there are. It’s important to understand, however, that just because the risk genes aren’t present doesn’t indicate that there’s no gluten intolerance or sensitivity. In such a case, an individual may not have celiac disease but would still require a gluten-free diet. Gastroenterologist Dr. Lewey, who published an article on Celiac.com entitled, “Ten Facts about Celiac Disease Testing,” reports that studies by Dr. Ken Fine of Enteroloab have indicated that just because DQ2 and DQ8 are absent doesn’t mean that there is no risk for gluten intolerance or sensitivity. Another study has indicated that the absence of DQ2 and DQ8 doesn’t exclude risk of the celiac disease, particularly among men. According to Dr. Lewey, “The absence of any portion of the high-risk genetic patterns DQ2 and DQ8 nearly excludes the possibility of celiac disease with an approximate accuracy of 99.9%. However, there is a big caveat about relying on ‘negative celiac genetic testing’.” In order to accurately establish that there is no celiac genetic factor, very complex genetic testing would have to be performed, which Dr. Lewey says is “complicated and difficult to understand even by physicians and scientists.” Despite the small chance of false negatives in celiac genetic testing, it is widely considered reliable. Carol Shilson, the executive director of the University of Chicago Celiac Disease Center, says, “The gene test, performed at a reliable lab, is very accurate,” Furthermore, the gene test results aren’t affected by environmental variables such as diet, which isn’t the case with other tests such as antibody blood tests and the intestinal biopsy. According to Dr. Lewey, celiac disease is arguably the most common of the autoimmune diseases, calling it “very common,” yet at the same time the diagnosis rate is alarmingly low. The celiac community currently has an effective arsenal of tests for the diagnostic process in order to turn this statistic around. Genetic testing, despite the fact that it may not be 100% accurate, appears nevertheless to be generally reliable. It has helped many people determine their own and their children’s risk of developing celiac disease. Resources: Ten Facts About Celiac Disease Genetic Testing Everyday Health: Genetic and Blood Tests for Celiac Disease Gluten Free Society: Genetic Testing for GS University of Chicago Celiac Disease Center: Antibody Blood Tests University of Chicago Celiac Disease Center: Genetic Testing
  2. Hello, I am brand new here. I have had blood work (while eating gluten). Followed by genetic testing (positive for both genes). Now I am on a 4 week gluten free challenge. Doc says she will then repeat my blood work and if my levels normalize she will order an endoscopy and biopsy. My question/concern is that my blood work is barely positive as follows: test: value: lab range IMMUNOGLOBULIN A 159 87-352 TTG IgA <2 U/mL 0-3 anti-gliadin antibody, IGG, serum 9 0-19 anti-gliadin antibody, IGA, serum 20 0-19 has anyone received a positive diagnosis in a situation like this? I've been gluten free for 3 days now and I already feel different. almost like every cell in my body is responding somehow.
  3. Hi Everyone, I am looking for any relevant medical studies, and some general support, that may help me sort out contradictory test results and follow up for my daughter. First family history: My husband presented with pediatric DH and was confirmed through skin biopsy at age 11. His younger sister had GI issues forever, but no rashes. She was given the TTG blood test seven times over many years and it was always negative, with normal total IgA levels . She final convinced someone to do an endoscopy anyway, at age 35, and had full-blown biopsy confirmed celiac with severe intestinal damage and a concurrent diagnosis of hashimoto's thyroiditis. So she is in the tiny percentage where TTG test and IGA never worked. DH's father is also now diagnosed as a celiac - after developing psoriasis and diabetes, he finally took the standard blood test at a free celiac awareness event in his 60s (TTG positive-but late in life) and later endoscopic biopsy confirmed celiac disease. His brother and multiple first cousins on husbands side are also being diagnosed as celiac (biopsy) or have adopted a gluten-free diet without diagnosis because of symptoms. (In other words...the genetic link on that side seems to be...stronger? than reported risk rates). BTW, there are also autoimmune disorders on my side (my dad has churgg-strauss, both sisters hashimotos thyroiditis) though no diagnosed gluten issues. So... my eldest daughter is seven. She had the TTG test at three (negative) and six (negative) ordered by her regular pediatrician at our request. She has ??symptoms??. It is HARD to tell with kids, and I am trying to check my own anxiety - I don't want to overreact needlessly. However, I think it is fair to say she exhibits: heightened irritability, sensory issues, strange recurring rashes on legs, face, and buttocks with no identified contact allergens, (husband says they didn't look like his DH, so ?), inconsistent (but frequent) reports of stomach pain, and inconsistent toileting issues. After a spike in these symptoms, to alleviate worry, we went to a GI celiac specialist for testing at a very well respected celiac center. The Doc recommended TTG, total IGA, DGP-IgG, and the genetic test. At age 7 she came back negative for TTG, normal for total IgA levels, and a strong positive on DGP-IgG. The range for her test - 20-30 considered a weak positive, over 30 a positive. Her results were over 100. He said based on this 'remarkable' serology result and the family history, she should have an endoscopy (multiple biopsies). However, he also told us her genetic results were negative, and her genes were incompatible with celiac disease. He followed up by saying that because her tests were contradictory we should do the endoscopy. We never saw the full genetic test results, and I need to figure out how to request them, but I assumed this meant she was negative for HLA DQ2 and DQ8 (I don't know this for sure.) Her endoscopy results were completely clean. No evidence of any damage. He calls them 'grossly unremarkable' in his lab report. He then told us that celiac disease was definitely excluded. I tried to ask about whether or not we should follow up on the high DGP-IgG result (I am concerned about other immune system implications) and he said no, and added that is could have been a false positive or it could be meaningless. IMHO, he was disappointingly snippy about it. (This totally surprised me, because we were at a celiac disease research center, and it annoyed me a bit, because in a phone conversation two weeks early he used that same test result as a strong reason for doing an endoscopy on a seven year old??) He also told me, "you can put her of a gluten-free diet if you want, but I don't recommend it." So...I would like to celebrate because she is NOT a CELIAC (yay?) but from what I understand (and if you know more please correct me !) - if she had that serology, negative biopsies, and no genetic testing they wold have considered her a 'potential celiac' and urged a gluten free diet. So.....she continues to have symptoms (inconsistent pain, rashes, toilet, sensory) that I think are not normal for a kid her age. (Example: urgent and unforeseen need to use toilet / evidence left in her underpants by the time she get there). My questions to the community: *How concerned should I be with that DGP-IgG result? Should I dismiss it as this expert suggested, given the family history? (Would you retest? Follow up with an immunologist? an allergist? Can people point me to med literature that clearly speaks to the accuracy and specificity of this test? I am confused by what I've read.) *Does anyone know of any medical lit that addresses why a kid might have an elevated DGP-IgG level if it isn't celiac disease? (I saw one study that seemed to suggest that in infants this might self resolve, but the same study pointed out that half the infants with elevated DGP-IgG and no measurable TTG results did have biopsy confirmed celiacs....) *Does anyone know of any studies that tracked DGP-IgG levels in DH patients vs other celiacs? *Does anyone know of other specific links between elevated DGP-IgG and other autoimmune disorders? *Are there other genetic markers I should check for, (including for DH instead of celiac), I should look for on her genetic report if I do manage to get a copy of it? (BTW, do you think it is worth it to try to have my husband genetically tested??? No one in his immediate family has done it because they were all diagnosed other ways.) *Are you a person that had biopsy confirmed DH and a negative genetic test? Or endoscopy confirmed celiac with a negative genetic test? (If so please please tell me you exist!) And last but not least, there are two younger sisters at elevated risk because of family history. What tests would you request for them? (I kinda want to chuck the genetic test through a window but I am trying to keep my faith in science and medicine and not be that mom-on-the-internet!) Finally -- I know I can just put her on a gluten-free diet. We are familiar with it and she already eats lots of gluten-free foods because of her dads diagnosis. However, we aren't a gluten-free household (yet) though I suspect we may be moving in that direction. The thing is, I do believe there are good lifetime reasons to have a clear diagnosis if possible. I appreciate any insights and relevant (especially reliable and evidence-based!) feedback or links. Thank you for reading such a long post!
  4. Hi, Ok. So one month ago I was diagnosed Celiac after having severe pain in my abdomen for the last month and many other symptoms. They did an endoscopy and a biopsy and the biopsy came back positive for Celiac. So I was told to go Gluten Free and the last month I have slowly felt better. I assumed I was properly diagnosed and started my life changing diet. 2 weeks ago they had me go in for blood work and both my serology test and genetic test came back negative for Celiac. The nurse who called me about me results said I don't have any aversion to gluten. She was not a kind lady and was very angry at me for asking her so many questions she could not answer. She had to talk to the Dr. 3 different times and call me back. I knew the serology test was done incorrectly and told her so. I feel like my Dr. just gave me a giant run around and don't even want to go back and see him... So how do I have a positive biopsy and negative genetic test? I know the serology was done incorrectly, as I had been gluten-free for over 3 weeks prior to the blood work... but if the genetic test came back negaitve... is it not possible that I could be Celiac? Do either of those tests actual test for gluten sensitivity? Or just for Celiac? Please any advise or any experiences you have could really help me at this point... Thank you so much!!!
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