HLA values and high IgA say no Celiac but symptoms say yes

[Maren Davis]

Hi,

My HLA DQ2 and DQ8 say no 97% certainty no Celiac. IgA level is high. Yet, the only thing that makes sense for myself, my grandparents, mother, and my children is Celiac based on our symptoms. Anybody else in this boat?

Thank you. MDavis

 

[trents]

Welcome to the forum, Maren!

The genetics of celiac disease is not a settled thing. So far at least two genes are known to be associated with celiac disease but researchers are finding evidence there may be more.

Have you considered NCGS (Non Celiac Gluten Sensitivity)? It shares a lot of the same symptoms with celiac disease, is 10x more common, and cannot be directly tested for. Celiac disease can be tested for and must first be ruled out when diagnosing NCGS.

May we assume from your remark about IGA being high that you have had a celiac panel done and the antibody tests specific for celiac disease were negative despite despite not having low total IGA? Total IGA is not a test for celiac disease but if it is low it can skew the tTG-IGA test toward the negative end. Can you be more specific about which antibody tests were run and what the scores were (along with reference ranges)? Maybe this will help: https://celiac.org/about-celiac-disease/screening-and-diagnosis/screening/

[knitty kitty]

 Although not as common as DQ 2 or DQ 8 genes, there are other genes that code for Celiac, like DQ 9.

[Maren Davis]

 

Does this help answer the question?

 

Done at my primary care office:

immunoglobulin A (IgA) mg/dL = 317

 

Done per request of Gastroenterologist who also took biopsies during an upper endoscopy. Those results have not come back yet: (I have been on a gluten-free diet for over 15 years now) Diagnosis GERD

 HLA DQ2 negative

 HLA DQ8 negative

HLA Variants detected

       HLA DQA1*             02

HLA DQA1*                    04

HLA DQB1*                    0303

HLA DQB1*                    0402

Typing performed by PCR and hybridization with sequence specific oligonucleotide probes (SSO) using the FDA-cleared LABType (R) SSO Kit

Thank you,  Maren

[trents]

Maren,

It appears your primary care doc did not actually do any antibody tests specific for celiac disease. The only thing he/she did was test your total serum IGA which has value only in the sense of explaining why the tTG-IGA test might be negative in the face of celiac symptoms. If you have been on a gluten free diet for over 15 years then any testing for celiac disease will not be valid. Antibody testing is designed to detect the inflammation caused by the ingestion of gluten in those people with celiac disease. The endoscopy/biopsy optically examines the villi that line the small bowel for signs of damage caused by that same inflammation. If you have been gluten free all that time, your villi should be healed and there should be no inflammation. You can expect the biopsy results to be negative.

Didn't any doctor inform you that you need to be eating regular amounts of gluten (equivalent of two slices of wheat bread daily) for weeks/months leading up to any testing for celiac disease? Or did you not mention to them that you have been eating gluten free all this time?

Edited June 27, 2022 by trents

[knitty kitty]

Not a geneticist, but looks like the HLA Variants you have tested positive for ARE capable of causing Celiac Disease.  

 

HLA-DQB1 gene

https://medlineplus.gov/genetics/gene/hla-dqb1/

And...

HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482388/

 

Do you have Diabetes?  

[Maren Davis]

21 hours ago, trents said:

Maren,

It appears your primary care doc did not actually do any antibody tests specific for celiac disease. The only thing he/she did was test your total serum IGA which has value only in the sense of explaining why the tTG-IGA test might be negative in the face of celiac symptoms. If you have been on a gluten free diet for over 15 years then any testing for celiac disease will not be valid. Antibody testing is designed to detect the inflammation caused by the ingestion of gluten in those people with celiac disease. The endoscopy/biopsy optically examines the villi that line the small bowel for signs of damage caused by that same inflammation. If you have been gluten free all that time, your villi should be healed and there should be no inflammation. You can expect the biopsy results to be negative.

Didn't any doctor inform you that you need to be eating regular amounts of gluten (equivalent of two slices of wheat bread daily) for weeks/months leading up to any testing for celiac disease? Or did you not mention to them that you have been eating gluten free all this time?

When I had to go gluten-free, I also had the Dermatitus herpitiformis condition and was told at that time I had to be eating the amount of gluten you alluded to. I simply cannot. Its an example of close to destroying something to find out what's wrong with it. 

19 hours ago, knitty kitty said:

Not a geneticist, but looks like the HLA Variants you have tested positive for ARE capable of causing Celiac Disease.  

 

HLA-DQB1 gene

https://medlineplus.gov/genetics/gene/hla-dqb1/

And...

HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482388/

 

Do you have Diabetes?  

No but bordering pre-diabetes. Why do you ask?

[knitty kitty]

I have Type Two Diabetes.  It can occur in some of those gene variants.  Thiamine deficiency may have a lot to do with it.  And with our Standard American Diet.  

Here's Drs. Lonsdale and Marrs' study that explains thoroughly....

Hiding in Plain Sight: Modern Thiamine Deficiency

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8533683/

I was an undiagnosed Celiac when I went from pre-diabetic to diabetic.  My doctors kept treating the symptoms of my increasing number of health problems with a variety of pharmaceuticals, but when I started taking Metformin, my health deteriorated rapidly.  Metformin blocks thiamine from entering cells in the body.  Already being low in thiamine due to Celiac malabsorption, and more thiamine being excreted by the kidneys in diabetes, the addition of Metformin pushed me into a Thiamine deficiency state and I became very ill.  

I follow the Autoimmune Protocol Diet now and keep my diabetes in control with diet instead of medications.  

Be sure to have your doctor refer you to a nutritionist.  And get checked for vitamin and mineral deficiencies.  

[Maren Davis]

On 6/27/2022 at 11:09 AM, knitty kitty said:

Not a geneticist, but looks like the HLA Variants you have tested positive for ARE capable of causing Celiac Disease.  

 

HLA-DQB1 gene

https://medlineplus.gov/genetics/gene/hla-dqb1/

And...

HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3482388/

 

Do you have Diabetes?  

Hi again. I do not have type 1 diabetes. I tried reading both articles referenced. It's a bit beyond my patience to get through. Any recommendations for a way to find someone who could read mine and give me a rundown? My gastro person was incredibly dismissive.