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Recent Activity
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- Scott Adams replied to Kj44's topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms1Testing
Thank you for sharing your genetic test results and background. Your results indicate you carry one half of the DQ2 heterodimer (DQA1*05), which is associated with a very low celiac disease risk (0.05%). While most celiac patients have either DQ2 or DQ8, these genes are also present in people without celiac disease, so the test alone doesn’t confirm a diagnosis. ... -
- Scott Adams replied to KRipple's topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms8
Celiac or Addison's complications? Can someone share their experience?
@cvz Thank you for sharing your daughter’s story. It sounds like she is managing multiple complex conditions with great care and diligence. It’s encouraging to hear that she is compliant with her gluten-free diet and that her Addison’s disease symptoms are under control. The addition of electrolytes seems like a thoughtful suggestion, especially given her f... -
- Kj44 posted a topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms1Testing
Hello I received this in a genetic lab test I requested from my provider. The patient is positive for DQA1*05, one half of the DQ2 heterodimer. The celiac disease risk from the HLA DQA/DQB genotype is approximately 1:1842 (0.05%). This is less than the 1% risk in the general population. Allele interpretation for all loci based on IMGT... -
- cvz replied to KRipple's topic in Celiac Disease Pre-Diagnosis, Testing & Symptoms8Celiac or Addison's complications? Can someone share their experience?
My daughter, age 48, has Down syndrome, hypothyroidism, Addison's disease, and Celiac disease, which was diagnosed based on blood tests last July. After a small intestine biopsy last fall, we were told that she has severe celiac disease. She is taking both levothyroxine and leothyronine for her hypothyroidism and both hydrocortisone and fludrocortisone... -
- Matt13 posted a topic in Post Diagnosis, Recovery & Treatment of Celiac Disease0Biopsy results after 1,5 gfd
Hi Guys, i did repeat biopsy after marsh3b (without erosion) and results are now: normal villi without atrtophy, 25/100 iel and moderate mononuclear inflamation in lamia propria, with occesional granulocytes. Doc says the he saw little erosion on duodenum. Is this good ? I mean is this progress? Please help!
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By Scott Adams · Posted
Thank you for sharing your genetic test results and background. Your results indicate you carry one half of the DQ2 heterodimer (DQA1*05), which is associated with a very low celiac disease risk (0.05%). While most celiac patients have either DQ2 or DQ8, these genes are also present in people without celiac disease, so the test alone doesn’t confirm a diagnosis. Since you’ve been gluten-free for 10 years, traditional diagnostic methods (like endoscopy or blood tests) would not be reliable now. If an official diagnosis is important to you, consider discussing a gluten challenge with your doctor, where you reintroduce gluten for a period before testing. Alternatively, you could focus on symptom management and dietary adherence, as your gluten-free diet seems to be helping. Consulting a gastroenterologist or celiac specialist could provide further clarity. Here is more info about how to do a gluten challenge for a celiac disease blood panel, or for an endoscopy: and this recent study recommends 4-6 slices of wheat bread per day: -
By Scott Adams · Posted
@cvz Thank you for sharing your daughter’s story. It sounds like she is managing multiple complex conditions with great care and diligence. It’s encouraging to hear that she is compliant with her gluten-free diet and that her Addison’s disease symptoms are under control. The addition of electrolytes seems like a thoughtful suggestion, especially given her fluid intake. It’s also reassuring that she hasn’t shown noticeable symptoms from accidental gluten exposure, though it’s understandable how challenging it can be to monitor for such incidents. The unexplained high lipase levels are intriguing—perhaps further investigation or consultation with a specialist could provide more clarity. Wishing you both continued strength and success in managing her health. Please keep us updated on her progress! -
Hello I received this in a genetic lab test I requested from my provider. The patient is positive for DQA1*05, one half of the DQ2 heterodimer. The celiac disease risk from the HLA DQA/DQB genotype is approximately 1:1842 (0.05%). This is less than the 1% risk in the general population. Allele interpretation for all loci based on IMGT/HLA database version 3.55 HLA Lab CLIA ID Number 34D0954530 Greater than 95% of celiac patients are positive for either DQ2 or DQ8 (Sollid and Thorsby, (1993) Gastroenterology 105:910-922). However these antigens may also be present in patients who do not have Celiac disease. Some background, I have been eating gluten free for about 10 years now. I have never had an official celiac diagnosis due to endoscopy and labs tested after I had already been eating gluten free for over 1 year. I was constantly sick and told you slowly remove foods and see what effects my symptoms. I have also come to realize that I have other symptoms of celiacs and recently requested the genetic testing shown above. I am looking to see if anyone has other recommendations for testing or just to clarify the results for me as I feel the official diagnosis could be helpful but I am not positive that it is even true for me.
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My daughter, age 48, has Down syndrome, hypothyroidism, Addison's disease, and Celiac disease, which was diagnosed based on blood tests last July. After a small intestine biopsy last fall, we were told that she has severe celiac disease. She is taking both levothyroxine and leothyronine for her hypothyroidism and both hydrocortisone and fludrocortisone for Addison's disease. She also takes Folic acid, magnesium, vitamin B-12, DHEA (DAGA), and a multivitamin. In July, she started on a gluten-free diet and is very compliant. She has had constipation and diarrhea issues all her life and now controls the constipation with Miralax, prunes, and apricots. Shel has only very occasional syncopes or vasovagal events and muscle aches in her upper back and neck. She drinks 4-6 or more 12 oz bottles or of liquid per day. Her doctor has just suggested adding electrolytes to one of those bottles daily. We are sorry to learn about the issues you are having and would like to stay in touch. We do not know anyone else with both Addison's disease and celiac disease. So far, she has no recognizable symptoms. We are doing our best to keep her gluten-free, but have no way of knowing if she has had an exposure to it unless we catch it ourselves. For example, a few weeks ago, a restaurant mistakenly breaded her fish, and I did not notice it until she had eaten most of it. She had no identifiable symptoms of the exposure then or days later. By the way, the reason she was screened for Celiac disease was that her blood lipase levels were unexplainably high. They still are. We have no idea why.
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Hi Guys, i did repeat biopsy after marsh3b (without erosion) and results are now: normal villi without atrtophy, 25/100 iel and moderate mononuclear inflamation in lamia propria, with occesional granulocytes. Doc says the he saw little erosion on duodenum. Is this good ? I mean is this progress? Please help!
-