Celiac Diagnosis With Negative Gene Test?

[SwimKat31]

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!

[Ursa Major]

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]

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]

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]

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]

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]

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

[Fiddle-Faddle]

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. If anything, they hush it up.

[fedora]

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]

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

Open Original Shared Link

nora

[nora-n]

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?]

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.

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

[Fiddle-Faddle]

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.