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Found 1 result

  1. 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!
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