Test Results

[Tracy414]

Hello-

I'm new here and trying to figure out my DNA test results. I did them through and online company (I understand it is not as comprehensive as going through primary doctor). They tested for DQ2, DQ8 and DQA1*05 I tested positive for DQ2 and DQA1*05. I reached out to the company and it is heterozygous. I did gluten free for about 7 weeks to see if my symptoms improved ,they did and then I ate gluten again (two pieces of bread or the equivalent) for about 7 weeks prior to getting testing for antibodies. During those 7 weeks my symptoms gradually returned. I have issues with bloating, gas, constipation, itchy bumps on my scalp, fatigue, muscle/joint aches and muscle weakness. My antibodies are all negative (tTIgA, tTIgG and the deamidated gliadin IgA and IgG). My grandfather had a ton of classic celiac symptoms, but was never diagnosed. My question is: can anyone help me understand my actual risk of developing celiac? I do understand the DNA test isn't exactly comprehensive, but perhaps some insight. I've read a lot of different articles, etc and I still have trouble understanding which group this puts me in.  At this point, I feel am likely sensitive to gluten or something in gluten containing products, so I plan to avoid them again. Thank you for taking the time to read this. I appreciate any insight anyone has to offer!

[trents]

Tracy414, welcome to the forum!

You wrote: "I've read a lot of different articles, etc and I still have trouble understanding which group this puts me in. " Here is my take based on what I have been reading on this forum and on the internet:

Your confusion is well-founded because the knowledge of the genetics of gluten related disorders is in a state of flux. There are just some murky gray areas and the more we learn the more we realize we don't know. At times, it defies our neat little black and white categories.

We know more about celiac disease than we do about NCGS (Non Celiac Gluten Sensitivity).

My understanding is that those with both DQ2 and DQ8 have the highest chance of developing celiac disease and and have more severe symptoms. Those with only DQ2 usually are more sensitive to gluten contamination than those with only DQ8. 

Apparently there are other, ancillary genes that influence the likelihood of those who have either or both of those two main celiac genes of developing active celiac disease. We also do know that the ancillary genetic factors are more important than external stress triggers (like viral infections) in determining who among those who have DQ2/DQ8 get active celiac disease. 

Some experts believe that NCGS may be a precursor to developing celiac disease. In other words, they are not mutually exclusive. There is likely genetic overlap between the two. Therefore, I think it is important for those with NCGS to get tested at regular intervals to see if there has been a transition to celiac disease.

Sorry, I know this doesn't answer all your questions but what I'm saying is I don't think we can give firm answers to your questions at this point in time. 

You mention itchy bumps on your scalp. Have you had them biopsied for DH? DH is definitive for celiac disease.

[Tracy414]

Thank you for the reply! It does help and I was wondering if I should have any additional monitoring with my results. I will discuss with my primary care doctor, she has been great! I did not have anything biopsies on my scalp. When I went and saw derm, she said she didn’t see anything. Said it was probably seborrheic dermatitis (dandruff) which I know it’s not that, I have dark hair! Haha. All my symptoms started around the same time, so hard to believe they are not all related!! I’ve looked at DH online and I don’t think it’s as severe as the photos and does not fit the “classic” look, but that doesn’t mean it’s not DH. If it doesn’t improve, I plan to reach out to my dermatologist, soon. Again, thank you for your thoughtful response! 

[trents]

Tracy, we have had posters on this forum who had negative antibody test results but positive biopsy results and vice versa. That is to say, some people who do have celiac disease throw atypical test results. That also reinforces the importance of getting full celiac panel done. Some throw negatives on the IGA tests but are caught by the IGG tests. As I said earlier these gluten disorders are proving to defy our neat little categories. People's immune systems are all different.

[Tracy414]

That’s interesting. Thankfully, my doctor did order all the antibodies and all negative. I’m going to return to gluten free eating and see how it goes!!

[trents]

Did your doctor order total serum IGA? If that is low, it can skew other antibody tests toward the negative range.

I know what I said earlier about those with NCGS should get regular testing to see if there is a transition to celiac disease but I was referring to those who don't commit to eating totally gluten free. Many with NCGS take it more causally. willing to cheat here and there and put up with an occasional reactive episode. If you are truly gluten-free and stay that way then it is unlikely any testing will be positive except in the case of refractory celiac disease. At the end of the day the antidote is the same for either celiac disease or NCGS and that is total abstinence from gluten.

[Tracy414]

Yes, the test included checking for IgA insufficiency and it was not detected. That all makes sense!! Thank you!! 

[Wheatwacked]

No wonder there is such confusion!  "Thus, the short answer is that in the case of NCGS a GFD is neither medically needed nor detrimental. However, NCGS has many similar aspects to irritable bowel syndrome," https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031484/

Because there is no autoimmune villi damage in NCGS are there vitamin deficiencies. 

Non-Celiac Gluten Sensitivity and Iron Deficiency Anemia Reversal through Nutrition: A Case Report   A 56-year-old, Italian-American post-menopausal female patient presented to an integrative medicine clinic in June 2016 with Irritable Bowel Syndrome (IBS) with constipation and Iron Deficiency Anemia (IDA), seeking nutrition advice to support improvement of symptoms of IBS including constipation, bloating, and stomach pain as well as for nutritional deficiencies, particularly anemia. Her history was significant for chronic fatigue, hypothyroidism, acid reflux, cold intolerance, hypoglycemic symptoms and dizziness. Her current medications included Levothyroxine, Esomeprazole Magnesium and iron polysaccharide (Ferrex 150). Prior to this, she suffered from anemia or borderline anemia for 25 years. The patient diagnosis and treatment are outlined in the timeline."I am both happy and angry that something so simple had this profound an effect, and I should have known having Celiac in my family had to have some relevance even though I tested "negative". 

 

Sometimes I feel like I am beating on a broken drum going on about Choline, Folate, B6 and B12. 

Quote

Coeliac patients showed a higher total plasma homocysteine level than the general population, indicative of a poor vitamin status. In accordance, the plasma levels of folate and pyridoxal 5'-phosphate (active form of vitamin B-6) were low in 37% and 20%, respectively, and accounted for 33% of the variation of the total plasma homocysteine level (P < 0.008). The mean daily intakes of folate and vitamin B-12, but not of vitamin B-6, were significantly lower in coeliac patients than in controls.  https://pubmed.ncbi.nlm.nih.gov/12144584/

 

[trents]

Wheatwacked, I am not sure what point you are trying to make in that last post. Are you trying to say the people with NCGS need not be concerned about the medical implications of NCGS since they don't have villi damage? Or, was that a tongue in cheek quote from NIH? I don't think NCGS rules out medical problems caused by gluten consumption such as neurological effects, of which we have had a number of posters diagnosed with NCGS report. I think there can be more to worry about from NCGS than just passing digestive discomfort. These things may be unrelated to villi damage but the gluten could be toxic to other systems in the body.

[Tracy414]

29 minutes ago, Wheatwacked said:

No wonder there is such confusion!  "Thus, the short answer is that in the case of NCGS a GFD is neither medically needed nor detrimental. However, NCGS has many similar aspects to irritable bowel syndrome," https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4031484/

Because there is no autoimmune villi damage in NCGS are there vitamin deficiencies. 

Non-Celiac Gluten Sensitivity and Iron Deficiency Anemia Reversal through Nutrition: A Case Report   A 56-year-old, Italian-American post-menopausal female patient presented to an integrative medicine clinic in June 2016 with Irritable Bowel Syndrome (IBS) with constipation and Iron Deficiency Anemia (IDA), seeking nutrition advice to support improvement of symptoms of IBS including constipation, bloating, and stomach pain as well as for nutritional deficiencies, particularly anemia. Her history was significant for chronic fatigue, hypothyroidism, acid reflux, cold intolerance, hypoglycemic symptoms and dizziness. Her current medications included Levothyroxine, Esomeprazole Magnesium and iron polysaccharide (Ferrex 150). Prior to this, she suffered from anemia or borderline anemia for 25 years. The patient diagnosis and treatment are outlined in the timeline."I am both happy and angry that something so simple had this profound an effect, and I should have known having Celiac in my family had to have some relevance even though I tested "negative". 

 

Sometimes I feel like I am beating on a broken drum going on about Choline, Folate, B6 and B12. 

I'm not sure if this was in response to my post, but when I read articles like the first, it makes me feel crazy. For almost 6 months, I had a load of weird things happening to my body and when I did an elimination diet, nearly all of them resolved or dramatically improved in about 3 weeks. This has been incredibly frustrating to say the least. 

29 minutes ago, Wheatwacked said:

 

 

[Wheatwacked]

3 minutes ago, Tracy414 said:

it makes me feel crazy

I added that artilcle because it's not you who is crazy

[Tracy414]

Thank you!! Dealing with a bunch of random issues and having no real answers is beyond frustrating. I had a terrible, itchy rash that spread over my entire body back in February and the person I saw says, "wow, your immune system is angry at you" gave me steroids and was done with me. Thankfully that person is not my primary care doctor. Oddly enough, my GI issues improved after 3 days of 10 mg prednisone. So inflammation was likely a factor in my GI issues. 

[trents]

16 minutes ago, Tracy414 said:

Thank you!! Dealing with a bunch of random issues and having no real answers is beyond frustrating. I had a terrible, itchy rash that spread over my entire body back in February and the person I saw says, "wow, your immune system is angry at you" gave me steroids and was done with me. Thankfully that person is not my primary care doctor. Oddly enough, my GI issues improved after 3 days of 10 mg prednisone. So inflammation was likely a factor in my GI issues. 

I took prednisone for a sinus infection once and all my other discomforts disappeared as well. I told the ENT I hadn't felt that good in years. "I hear that a lot," he said. "Unfortunately, it's not drug that you can take long term."

[Tracy414]

I know and I would never want to take the medication long term. I didn't have the typical burst of energy, just started to have regular BMs and my rash went away! Long term steroid use can cause a whole other set of problems.

[Wheatwacked]

34 minutes ago, trents said:

"Unfortunately, it's not drug that you can take long term."

I've been on 10 years now. They push newer drugs for the profit, not the results. Those same doctors have no problem with insulin, thyroxine, methyltrexate.

[Wheatwacked]

Tongue in cheek about NCGS. I was amazed to see someone with his credentials still believing that wheat is essential.

[trents]

I note that the first article you linked, Wheatwacked, was authored in 2014 and we have learned much since then about gluten-related disorders.

Also, the author seems to ignore all but digestive distress effects of NCGS when there seems to be other medical issues connected with gluten in those who have been diagnosed with NCGS.

[trents]

2 hours ago, Wheatwacked said:

I've been on 10 years now. They push newer drugs for the profit, not the results. Those same doctors have no problem with insulin, thyroxine, methyltrexate.

You must be on a low dose for maintenance.

[Wheatwacked]

5mg if I'm inactive. Been gardening an hour each morning so had to increase to 10. If I take too much for more than a few days I get bruises on my forearm that is unique to predinsone. So I use that as an indication to reduce. The doctor gave me a month worth of Tramodol to use while weaning off but after a week I gave it back. All kinds of hormones from predisone.

[trents]

28 minutes ago, Wheatwacked said:

5mg if I'm inactive. Been gardening an hour each morning so had to increase to 10. If I take too much for more than a few days I get bruises on my forearm that is unique to predinsone. So I use that as an indication to reduce. The doctor gave me a month worth of Tramodol to use while weaning off but after a week I gave it back. All kinds of hormones from predisone.

What about bone demineralization?

[Wheatwacked]

Had a Dexxa scan last year. Osteopenia. But that could be from the years of untreated Celiac. Or my diet intake deficiencies. Or age. Her concern that it was driving up my BP was assuaged when my BP in office was 106/56 once. I still have to sign a note that I decline bp meds and statins but my homocysteine is normal (my obsession about choline) and that is an independant indicator of vascular inflammation. My experience with lisinopril and amlodipine did not go well.

[knitty kitty]

@Tracy414,

Welcome!

I have DH and I've had serionegative test results.  I found this article in my researching and thought you would be interested.  It's from 2019.

Dermatitis Herpetiformis: Novel Perspectives

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6579917/

"...recent evidence suggested that DH is changing. Firstly, some studies reported a reduced incidence of DH, probably due to early recognition of celiac disease, so that there is not enough time for DH to develop. Moreover, data from Japanese literature highlighted the absence of intestinal involvement as well as of the typical serological markers of celiac disease (i.e., anti-tTG antibodies) in Japanese patients with DH. Similar cases may also occur in Caucasian patients, complicating DH diagnosis. The latter relies on the combination of clinical, histopathologic, and immunopathologic findings."

And...

...the closest association occurs with HLA-DQ2 (combination of the DQA1*0501 and DQB1*02 alleles) and DQ8 (combination of the DQA1*03 and DQB1*0302 alleles)..."

That rash on your back and scalp may well be DH which explains the negative blood tests for Celiac according to this article.

Hope this helps!

[carlisima]

On 7/21/2022 at 6:31 PM, Tracy414 said:

Hello-

I'm new here and trying to figure out my DNA test results. I did them through and online company (I understand it is not as comprehensive as going through primary doctor). They tested for DQ2, DQ8 and DQA1*05 I tested positive for DQ2 and DQA1*05. I reached out to the company and it is heterozygous. I did gluten free for about 7 weeks to see if my symptoms improved ,they did and then I ate gluten again (two pieces of bread or the equivalent) for about 7 weeks prior to getting testing for antibodies. During those 7 weeks my symptoms gradually returned. I have issues with bloating, gas, constipation, itchy bumps on my scalp, fatigue, muscle/joint aches and muscle weakness. My antibodies are all negative (tTIgA, tTIgG and the deamidated gliadin IgA and IgG). My grandfather had a ton of classic celiac symptoms, but was never diagnosed. My question is: can anyone help me understand my actual risk of developing celiac? I do understand the DNA test isn't exactly comprehensive, but perhaps some insight. I've read a lot of different articles, etc and I still have trouble understanding which group this puts me in.  At this point, I feel am likely sensitive to gluten or something in gluten containing products, so I plan to avoid them again. Thank you for taking the time to read this. I appreciate any insight anyone has to offer!

Hello, 

Sorry you’re going through this. All my bloods were negative but I just didn’t believe them, so I paid for an endoscopy. On the health service here they wouldn’t do it without some level of antibodies in my blood but I was convinced. 

Low and behold I was diagnosed on Thursday. Some of us just don’t produce the antibodies. 
 

You know yourself better than anyone else. Good luck!! 

[Tracy414]

2 hours ago, carlisima said:

Hello, 

Sorry you’re going through this. All my bloods were negative but I just didn’t believe them, so I paid for an endoscopy. On the health service here they wouldn’t do it without some level of antibodies in my blood but I was convinced. 

Low and behold I was diagnosed on Thursday. Some of us just don’t produce the antibodies. 
 

You know yourself better than anyone else. Good luck!! 

I’m so glad you were able to get a diagnosis and have an answer! So true. Thank you for sharing, this makes me feel better. Feel off/bad starts to take a toll and you feel like you’re losing your mind when you cannot find an absolute answer. 

[T burd]

2 hours ago, carlisima said:

Hello, 

Sorry you’re going through this. All my bloods were negative but I just didn’t believe them, so I paid for an endoscopy. On the health service here they wouldn’t do it without some level of antibodies in my blood but I was convinced. 

Low and behold I was diagnosed on Thursday. Some of us just don’t produce the antibodies. 
 

You know yourself better than anyone else. Good luck!! 

You should be able to apply to have that refunded…