Unsure what to do next...

[smeen]

I would appreciate any support with this situation! I'll try to be as brief as I can be.

I am 27 y/o, and have been diagnosed with Graves' disease last year. After a flare of Graves' disease and my body suddenly requiring more medication to treat it, along with having a lot of symptoms of Celiac disease, my endocrinologist suggested I get tested. I had stopped eating gluten already for a few weeks after a friend came to visit and symptoms improved greatly. I then saw a doctor who told me I did not need to be eating gluten to take Celiac tests and to do an elimination diet. I told her I would like to try eating gluten before testing, just to be more sure. So, I ate gluten for 4 weeks before testing (I then learned maybe it should have been longer than 4 weeks, more like 8 weeks). My results came back as a 16 for the TTG-IGG test (limit was 12) and a 12 for the IGG-IGA test (limit 13). So one was positive, and the other was negative, though it was only 1 unit from positive, and I had not been eating gluten for quite the recommended time. They said these results were "indeterminate", and suggested that I either just cut out gluten if it feels good or that I take the HLA typing test. I did the HLA typing test, as a major life-long change like that without knowing if I even have Celiac did not sit well with me. The test showed that I have the DQ-2 gene, specifically HLA-DQ-A1*05. 

What is really confusing is that the doctor responded and said that based on this second test, I do not have Celiac. They said again that I can just cut out gluten if I wanted. I am on a waitlist for a gastroenterologist, but they do not have availability right now. I'm feeling lost because I thought that having the gene meant that they couldn't rule out Celiac, but the response to the positive gene test was, that I don't have it. I am concerned since I already have another autoimmune condition, and I don't want this to make it worse, or to make any other conditions develop. Do you think it's worth it to get another opinion about this or try to retest after I have eaten gluten for more than 4 weeks? Thank you!

[trents]

I'm not clear on whether you are referring to the IGG-IGA antibody test or the genetic testing when you say the doctor told you it meant you don't have celiac disease.

There certainly is evidence from your antibody testing that you could have celiac disease and the genetic testing allows for that conclusion as well and then on top of that your symptoms improved dramatically when you went gluten free for a time. As an alternative to more antibody testing you might pursue the second stage of celiac disease testing and that is an endoscopy with biopsy. It requires a shorter gluten challenge period: two weeks of consuming at two slices of wheat bread (or the gluten equivalent) daily.

It is also possible you have NCGS (Non Celiac Gluten Sensitivity) instead of celiac disease. They share many of the same symptoms but NCGS does not damage the villous lining of the small bowel as does celiac disease. NCGS is 10x more common than celiac disease and some gluten disorder experts feel it can be a precursor to celiac disease. There is no test yet for NCGS. celiac disease must first be ruled out.

Edited September 27, 2023 by trents

[smeen]

12 hours ago, trents said:

I'm not clear on whether you are referring to the IGG-IGA antibody test or the genetic testing when you say the doctor told you it meant you don't have celiac disease.

There certainly is evidence from your antibody testing that you could have celiac disease and the genetic testing allows for that conclusion as well and then on top of that your symptoms improved dramatically when you went gluten free for a time. As an alternative to more antibody testing you might pursue the second stage of celiac disease testing and that is an endoscopy with biopsy. It requires a shorter gluten challenge period: two weeks of consuming at two slices of wheat bread (or the gluten equivalent) daily.

It is also possible you have NCGS (Non Celiac Gluten Sensitivity) instead of celiac disease. They share many of the same symptoms but NCGS does not damage the villous lining of the small bowel as does celiac disease. NCGS is 10x more common than celiac disease and some gluten disorder experts feel it can be a precursor to celiac disease. There is no test yet for NCGS. celiac disease must first be ruled out.

Thank you for this response, that's how I felt too. They said they "ruled it out" after getting the genetic test back. I guess I feel like I want to know for sure if it's ruled out or not because otherwise I feel like I'm changing the rest of my life without evidence to need to do that.

[trents]

Well, if you have the DQ-2 gene, you have the potential for celiac disease. I'm not sure how your physician can justify ruling celiac disease out on that basis. The DQ-2 and the DQ-8 genes are the ones that have definitely been associated with celiac disease. If you only have one of them your chances of having celiac disease are less but not zero.

[smeen]

Just now, trents said:

Well, if you have the DQ-2 gene, you have the potential for celiac disease. I'm not sure how your physician can justify ruling celiac disease out on that basis. The DQ-2 and the DQ-8 genes are the ones that have definitely been associated with celiac disease. If you only have one of them your chances of having celiac disease are less but not zero.

Yeah... I'm not going to see this physician again....

[Emmy208]

14 hours ago, smeen said:

I would appreciate any support with this situation! I'll try to be as brief as I can be.

I am 27 y/o, and have been diagnosed with Graves' disease last year. After a flare of Graves' disease and my body suddenly requiring more medication to treat it, along with having a lot of symptoms of Celiac disease, my endocrinologist suggested I get tested. I had stopped eating gluten already for a few weeks after a friend came to visit and symptoms improved greatly. I then saw a doctor who told me I did not need to be eating gluten to take Celiac tests and to do an elimination diet. I told her I would like to try eating gluten before testing, just to be more sure. So, I ate gluten for 4 weeks before testing (I then learned maybe it should have been longer than 4 weeks, more like 8 weeks). My results came back as a 16 for the TTG-IGG test (limit was 12) and a 12 for the IGG-IGA test (limit 13). So one was positive, and the other was negative, though it was only 1 unit from positive, and I had not been eating gluten for quite the recommended time. They said these results were "indeterminate", and suggested that I either just cut out gluten if it feels good or that I take the HLA typing test. I did the HLA typing test, as a major life-long change like that without knowing if I even have Celiac did not sit well with me. The test showed that I have the DQ-2 gene, specifically HLA-DQ-A1*05. 

What is really confusing is that the doctor responded and said that based on this second test, I do not have Celiac. They said again that I can just cut out gluten if I wanted. I am on a waitlist for a gastroenterologist, but they do not have availability right now. I'm feeling lost because I thought that having the gene meant that they couldn't rule out Celiac, but the response to the positive gene test was, that I don't have it. I am concerned since I already have another autoimmune condition, and I don't want this to make it worse, or to make any other conditions develop. Do you think it's worth it to get another opinion about this or try to retest after I have eaten gluten for more than 4 weeks? Thank you!

Hi there, just another clarifying question—you said that it showed you had “the DQ-2 gene, specifically HLA-DQ-A1*05.” Did you mean to say that you have DQ2.5 (HLA-DQA1*05 and HLA-DQB1*0201/2)? Or was only the HLA-DQA1*05 allele detected?

If you have one copy of DQ2.5, that is a “moderate” HLA genetic risk for celiac disease. If you have only the DQA1*05 allele, you have a “low” HLA genetic risk for celiac disease—however, it is definitely still possible that you could have celiac, as some people with celiac disease have one half of the DQ2 gene.