Jump to content
This site uses cookies. Continued use is acceptance of our Terms of Use and Privacy Policy. More Info... ×
  • Welcome to Celiac.com!

    You have found your celiac tribe! Join us and ask questions in our forum, share your story, and connect with others.




  • Celiac.com Sponsor (A1):



    Celiac.com Sponsor (A1-M):


  • Get Celiac.com Updates:
    Support Our Content
    eNewsletter
    Donate

Celiac Diagnosis With Negative Gene Test?


SwimKat31

Recommended Posts

SwimKat31 Newbie

After 3 years of unusual health problems, I've suspected for about 6 months now that I have a problem with gluten. I just had a follow-up appointment with my doctor this week to go over some lab tests I had done. In the past, I had had a negative genetic test for HLA DQ2 or 8 (I'm DQ5/6), so I was NOT expecting my lab tests this time to be positive.

But positive they were! My IgA antibodies were elevated, and I also had a positive fecal fat test for malabsorption. My doctor said these tests suggest Celiac even though I don't have the genes for it. This doctor is a world-renowned expert on Celiac disease, and apparently he said he's only heard of two or three other cases in the US like it, both at the Mayo Clinic. I have not had a biopsy yet to confirm the diagnosis.

What I was wondering is... is there anybody else out there actually diagnosed with Celiac with negative genetic tests? Thanks!


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



Ursa Major Collaborator

The problem is, that here in North America the medical establishment will only recognize two official celiac disease genes, while in Europe and Asia they recognize seven I believe. Meaning that in other countries you would likely have been diagnosed earlier, and you wouldn't even ask your question!

Yes, there are people here who have been diagnosed with celiac disease by biopsy, even though they have the 'wrong' genes.

tom Contributor

Plenty of celiacs don't have DQ2 or DQ8.

Admittedly, not a high %.

Genetic research is ongoing and will be for quite some time imho.

nora-n Rookie

Hi, you can have half a DQ2 gene (0501) together with DQ5 and 6.

If they did not test for both the alpha and beta chains, they do not find this half gene.

Open Original Shared Link

And, I have some links that they find several per thousand with other genes than DQ2 and 8:

Open Original Shared Link

note you need the wiki page to decipher the alpha (DQA1) chains and beta chains (DQB1)

Open Original Shared Link

and in the case of DRB, which they sometimes mention in other articles, you need the wiki for DR

Open Original Shared Link

About only two patients being officially diagnosed with DQ1: over at the neurotalk or braintalk forum there is someone keeping track of officcially diagnosed celiacs with other genes, and I seem to recall there are more than 2. I think it was more like 20-30.

If you surf around here on the forum, there are lots of people with other genes than DQ2 or 8.

There was one about a year ago, who was properly diagnosed celiac for years, who had a gene test and it showed DQ6 and they took away her diagnosis. You have to count her in too. There were posts about this here in this thread I think.

Here is a thread about celiac and other genes:

Open Original Shared Link

The braintalk forum is here Open Original Shared Link and several are DQ1. They seem to be more sensitive to gluten than DQ2 or 8. I think they will be thrilled if you post about your diagnosis despite being DQ1.

Maybe it is jcc there that keeps track of the non-DQ2 or 8 celiacs, I do not remember.

Dr. Hadjivassiliou has written several articles about gluten ataxia. He writes he found that about 20% of his gluten ataxia patients are DQ1. You can even google hadjivassiliou and find the articles.

ravenwoodglass Mentor

We are here. I was in the end stages of celiac before diagnosis. I am a double DQ9, here in the US my gene tests would have given me a diagnosis of RA, which I did have severe symptoms of. It makes me sad to think that so many RA patients in the US might achieve remission if they recognized DQ9s and their need to be gluten free. I am extremely thankful that I did not gene test until 5 years after diagnosis. By then the though of RA was wayyyyy in the past as I had been in remission for over 4 years. I was well on my way to demetia also by the time I was diagnosed. My brain has not totally healed because it took so dam long to diagnose me but I am worlds from where I was 6 years ago. Doctor need to get their heads out of the drug company literature and read some research.

SwimKat31 Newbie

Thank you all for your replies. I'm glad I'm not alone on this. I'm also so amazed at how little the medical community actually knows about the relationship between genetics and Celiac/gluten intolerance, especially in the US.

It appears there are too many people on this forum, me included, who are living proof that our current state of "knowledge" does not sufficiently explain the problem. I am a big believer in modern medicine, in fact I'm currently applying to medical school, but this is one case where modern medicine seems to not have the answers. The human body is just too complex to make broad generalizations like "you cannot have Celiac without DQ2 or 8". And I'm not sure why most physicians don't seem to realize a simple blood test often doesn't pick up on these intricacies.

nora-n Rookie

I think that s of the problem is that they do not want to diagnose too many patients, because here in some places in europe diagnosed celiacs get money from the government for gluten-free food etc.

Here they get about 350 usd a month.

So they have to set some strict standards.

(on a second thought, I think I will have to ask the lab, a research lab, to re-run my gene test, since there is too much pointing to celiac in my case, like hypothyroidism and daughter diagnosed celiac. i do not even know which method they used. I could be mistyped too, see another thread here where they re-did the test and it turned out positive using another method. She turned out to be DQ8 after all. Before reading the wiki on DQ and DR (both of them), Dr. Lewey's articles on gene typing, and the thread here where someone bot a differrent result after questioning the lab, I now have the ammunition to question the gene test result )

nora

norway


Celiac.com Sponsor (A8):
Celiac.com Sponsor (A8):



Celiac.com Sponsor (A8-M):



Fiddle-Faddle Community Regular
W Doctor need to get their heads out of the drug company literature and read some research.

The problem is, most of the research is funded by the drug companies. And when they get a result that doesn't point to profits (i.e., diet change resulting in cure), they don't publish their findings. :ph34r: If anything, they hush it up.

fedora Enthusiast

I did not have a biopsy or blood test

Gluten wrangler on here is double DQ5 AND has biopsy proven refractory sprue.....

Hope you heal soon

nora-n Rookie

swimkat, here in this thread jcc says she has "crossed paths" with two celiacs with DQ1 (just like you):

Open Original Shared Link

nora

  • 2 weeks later...
nora-n Rookie

Swimkat, here are two DQ1 subtype 6 in Spain:

Open Original Shared Link

weird taht they do not say they are DQ1, maybe noone wants to give Dr. Hadjuvassiliou right? He found 20% of his gluten ataxia patients to be DQ1.

nora

dollamasgetceliac? Explorer
We are here. I was in the end stages of celiac before diagnosis. I am a double DQ9, here in the US my gene tests would have given me a diagnosis of RA, which I did have severe symptoms of. It makes me sad to think that so many RA patients in the US might achieve remission if they recognized DQ9s and their need to be gluten free. I am extremely thankful that I did not gene test until 5 years after diagnosis. By then the though of RA was wayyyyy in the past as I had been in remission for over 4 years. I was well on my way to demetia also by the time I was diagnosed. My brain has not totally healed because it took so dam long to diagnose me but I am worlds from where I was 6 years ago. Doctor need to get their heads out of the drug company literature and read some research.

:huh: Sorry what is RA? I am not computer savvy so I really am bad at abriviations.

Fiddle-Faddle Community Regular
:huh: Sorry what is RA? I am not computer savvy so I really am bad at abriviations.

RA is rheumatoid arthritis, often diagnosed YEARS before celiac, and symptoms frequently improve or disappear on a gluten-free (and sometimes casein-free) diet.

Archived

This topic is now archived and is closed to further replies.


  • Celiac.com Sponsor (A19):



  • Member Statistics

    • Total Members
      130,575
    • Most Online (within 30 mins)
      7,748

    Ahorne
    Newest Member
    Ahorne
    Joined

  • Celiac.com Sponsor (A20):


  • Forum Statistics

    • Total Topics
      121.3k
    • Total Posts
      1m

  • Celiac.com Sponsor (A22):





  • Celiac.com Sponsor (A21):



  • Upcoming Events

  • Posts

    • Rejoicephd
      Thank you very much @trents! This is super helpful. The only time I wasn’t sick after my diagnosis was when I was ordering and eating certified gluten-free meals from a company. I did that for a few months right after being diagnosed and then I started to try to figure it out how to cool and eat gluten-free meals myself. I think I’m probably getting low levels of gluten exposure and maybe that’s what’s making me ill. Possibly other things also not helping the situation (like dairy). Anyway this gives me something to focus on to see if it helps. So thanks for that!
    • trents
      Welcome to the celiac.com, @Rejoicephd! 1. "Gluten Free" does not equate to "contains no gluten". According to FDA advertising regulations, it means it cannot contain more than 20ppm of gluten. This is a good standard for most in the celiac community but not good enough for those on the sensitive end of the spectrum. If you find the "Certified Gluten Free" symbol on a package that is even better, indicating that there is no more than 10ppm of gluten.  2. When you are choosing "gluten free" items from a restaurant, realize that it only means gluten is not an intentional ingredient. It does not rule out CC (Cross Contamination) caused by those cooking and preparing the food back in the kitchen who may be cooking it on the same surfaces or in the same pots/pans as they are gluten containing food items and handling it with the same utensils they are handling gluten-containing food. 3. About 8% of celiacs react to the protein avenin in oats as they do the protein gluten in wheat/barley/rye. In addition, some cultivars of oats actually contain the protein gluten. Many celiacs also react to the protein casein in dairy products as they do gluten or they are lactose intolerant. Eggs, soy and corn are also common "cross reactors" in the celiac community but oats and dairy are the most common.
    • Rejoicephd
      Hi everyone! I was diagnosed with celiac a year ago (they confirmed it on endoscopy following a positive TTG antibody and positive genetic test). I thought the gluten free diet thing wasn’t going to be that hard of an adjustment, but man was I wrong. I’m a year in and still having issues in terms of accidentally glutening myself and getting super sick (I’m starting to think I need to just bring my own food everywhere I go). And also even when I am eating foods that say they are gluten free, I’m still dealing with an upset stomach often. My GI doc said I should avoid dairy as well, and the internal medicine doc said my gut microbiome might be messed up from all of this. I’m just looking for some answers/ideas/tips on what additional things I can do to feel better. Do you all do avoid additional categories of foods beyond just gluten to help alleviate symptoms? Thanks! 
    • trents
      If your total IGA is low then the values for the other IGA tests cannot be trusted. They will be depressed. Celiacs who have the DQ2 gene typically are on the more sensitive side as opposed to those who only have the DQ8. But keep in mind that having either or both of those genes does not equate to having celiac disease as 40% of the general population have one or the other and only about 1% of the general population develops active celiac disease. Genetic typing can be used for ruling it out, however. Because of the low total IGA, symptoms and the possession of the DQ2 gene, my suggestion would be for you to go seriously gluten free for a few months and see if your symptoms improve. It may be the only way you can ascertain if you are gluten intolerant because of the low total IGA.
    • Cat M
      Ah ok, I just saw didn’t even post the DGP IgA at all. 😫 I started with itching and hives Jan 2024, been taking a ton of meds and on Xolair and even that is not providing total relief. The other primary symptoms: intermittent but worsening abdominal pain, diarrhea and bloating. This summer I am just exhausted. I uploaded my 23andMe data to genetic lifehacks and discovered quite a few variations, including DQ2, MTHFR, VDR and I have always had very low ferritin, vitamin D and B12. I still think that mast cell disease makes the most sense, but latest labs show I am barely in range for thiamine, zinc and vitamin A, so the GI stuff feels more important to figure out than the hives right now. I did SIBO testing this morning. TTG IGA <2   0-3 is negative TTG IGG  3   0-5 is neg DGP IGA 21    20-30 is weak positive DGP IGG 4    0-19 is negative Although total IGA is not resulted, there is a footnote stating it was low and the reason they ran IGG.  
×
×
  • Create New...