Hla-dq2 And Hla-dq8

[cmbajb]

I am reading more and more statements by different medical colleges and universities, as well as medical professional groups that a negative HLQ-DQ2 and HLA-DQ8 test results means that you cannot have celiac disease. I am so very concerned that that very small, rare, subset of people that do have celiac diseasel but do not have these genetic markers will not be diagnosed. Can anyone else weigh in on this? Thanks.

[fedora]

well, I don't know why they say that, the truth is it is rare to have celiac without those two genes, but not unheard of. There are definately documented cases. Not to mention that lots of people who were diagnosed with biopsy have never got the gene test. I have a friend on here who has refractory sprue and is double DQ5.

take care

[Rachel--24]

I am reading more and more statements by different medical colleges and universities, as well as medical professional groups that a negative HLQ-DQ2 and HLA-DQ8 test results means that you cannot have celiac disease. I am so very concerned that that very small, rare, subset of people that do have celiac diseasel but do not have these genetic markers will not be diagnosed. Can anyone else weigh in on this? Thanks.

Generally people are not diagnosed based on genetic testing alone...they are diagnosed based on positive bloodwork and/or positive biopsy.

Even if someone has DQ2 and/or DQ8.....this does not mean that they actually have Celiac Disease. The results of bloodwork and biopsy are important in making the diagnosis. Most doctors arent going to only order a gene test and decide if a person has Celiac based on those findings alone...a diagnosis cant be made that way.

Usually the gene test is not even ordered when the other tests are positive and the diet resolves symptoms.

However, if the tests are positive and the genes are negative....some doctors may not give a diagnosis. Fortunately, noone needs a doctors permission to begin the diet. The only treatment for Celiac is the gluten-free diet...so with or without a formal diagnosis we can try the diet....we dont need a prescription.

If the symptoms clear up....then the answer is obvious.

[Rachel--24]

I have a friend on here who has refractory sprue and is double DQ5.

Refractory sprue means non-responsive to treatment...which would be the gluten free diet.

Personally, I have never really believed in "refractory sprue"....our bodies are capable of healing. When we dont heal its because something is preventing it.

If I were diagnosed with refractory sprue....without having Celiac genes....I would definately be looking at some other possibilites.

Candida would be one issue I'd thoroughly investigate.

Coeliac disease is a T-cell-mediated autoimmune disease of the small intestine that is induced by ingestion of gluten proteins from wheat, barley, or rye. We postulate that Candida albicans is a trigger in the onset of coeliac disease. The virulence factor of C albicans-hyphal wall protein 1 (HWP1)-contains amino acid sequences that are identical or highly homologous to known coeliac disease-related alpha-gliadin and gamma-gliadin T-cell epitopes. HWP1 is a transglutaminase substrate, and is used by C albicans to adhere to the intestinal epithelium.

Furthermore, tissue transglutaminase and endomysium components could become covalently linked to the yeast. Subsequently, C albicans might function as an adjuvant that stimulates antibody formation against HWP1 and gluten, and formation of autoreactive antibodies against tissue transglutaminase and endomysium.

https://www.celiac.com/articles/695/1/Does-...ease/Page1.html

If Candida can trigger the same chemical and immunological reactions as wheat gluten do we can imagine a number of interesting implications.

First, in people with celiac disease, symptoms usually get better rapidly when they eliminate gluten from their diet. This isn't always the case. Even without gluten some people continue to have symptoms. They may have intestinal Candidiasis. The Candida in their gut may be acting like gluten and continues triggering symptoms.

Candida infections occur frequently with antibiotic usage. In people genetically susceptible to celiac, extra caution should be exercised when using antibiotics to prevent Candida overgrowth.

Whenever Celiac disease is diagnosed, Candida infections should be tested for and treated aggressively. People of Irish descent are far more likely to get celiac disease than others and should be extra cautious to avoid Candida infections and treat them aggressively if they occur.

I have often wondered about that very small percentage of people who are diagnosed with Celiac and do not have either of the main genes. Do they actually get better on the gluten-free diet? Or do they continue to have problems....like your friend who is diagnosed Refractory Sprue??

I have asked this question in other threads.....with no answers...because noone actually knows how any of these rare cases of diagnosed Celiacs (without DQ2 or DQ8) actually turn out. Do these people heal?

Misdiagnoses happen with every disease.....and Celiac is no different. Gluten is not the only thing we know of to cause villi damge.

Yes.....it would certainly be sad to see someone with Celiac not diagnosed based on gene results.....but its just as sad when someone IS diagnosed and this is not the true reason for their health problems.

In my opinion a diagnosis of refractory sprue is not an answer....it basically the doctors way of saying "You are not healing and we have no answers for you." There is *always* an answer....sometimes we just have to work very hard to find it.

[ravenwoodglass]

I have often wondered about that very small percentage of people who are diagnosed with Celiac and do not have either of the main genes. Do they actually get better on the gluten-free diet? Or do they continue to have problems....like your friend who is diagnosed Refractory Sprue??

I have asked this question in other threads.....with no answers...because noone actually knows how any of these rare cases of diagnosed Celiacs (without DQ2 or DQ8) actually turn out. Do these people heal?

I didn't have my genes tested until 5 years after diagnosis. I am a double DQ9, not a currently recognized celiac gene IN THE US. Here it is considered a gene for RA, in Turkey it is considered a excema gene, in Japan it is now recognized as a celiac gene but previously was linked only to a rare form of adult onset type 1 diabetes. Seem confusing? Well gene research is in it's infancy, there have also been 7 more genes added to the 2 that are currently linked to celiac but most doctors in the US are not aware of that.

Do those celiacs with non-celiac genes recover on the gluten free diet, well in my case yes. Has my return to health been total, of course not. It took almost my whole life to diagnose me. My nerve damage began at about age 5 when I lost my reflexes and balance and was covered in DH (diagnosed as poison ivy in my blood stream). Have I been able to resolve most of my health issues including nerve and brain damage? I would say my recovery was really good and if I had been diagnosed before 15 years of daily D damaged my system to say nothing of all the toxic drugs I was on it might have even been a complete healing. I am happy though that I can now think fairly clearly, I am no longer covered in oozing nasty sores, I no longer spend my nights sweating and shaking for two hours while my body violently clears out, I have reflexes again although my ataxia is still there, reduced on most days though, I no longer have migraines and I can now use my hands painfree and the arthritis has also left my legs and hips.

Unfortunately until US medicine gets it's head out of the PDR many more of us will continue to suffer if doctors use the gene testing to tell them for sure that it is not celiac. Good for them, they get to prescribe more tests and drugs. Bad for us as we continue to be killed slowly and painfully by gluten because "if we don't have one of two recognized genes" gluten can't be an issue. But heck most docs can't get it through their heads that we can't use topicals with gluten so how can we expect them to be current on the newest gene research?

Gene tests can be a useful tool but they can not be relied on for diagnosis.

[cmbajb]

Thanks all. I have a friend who was seen at a "major medical center" and was told he couldn't have celiac disease because he did not have the HLA-DQ2 and 8 markers. They wouldn't do the biopsy because of this. Note that their website site states specifically that if you dont' have these markers you can't have celiac disease.

Does anyone have a link to a good article, or articles, that I can pass along to my friend so he will continue to pursue getting answers instead of giving up and "living with" his problems?

[Rachel--24]

Thanks all. I have a friend who was seen at a "major medical center" and was told he couldn't have celiac disease because he did not have the HLA-DQ2 and 8 markers. They wouldn't do the biopsy because of this. Note that their website site states specifically that if you dont' have these markers you can't have celiac disease.

Does anyone have a link to a good article, or articles, that I can pass along to my friend so he will continue to pursue getting answers instead of giving up and "living with" his problems?

If it were me and I wanted to be as certain as I could possibly be....I would go to another Dr. and request bloodwork and biopsy.....without mentioning that I do not carry either of the main genes.

I never had any problems getting the tests I wanted.....however, I had to do my own research so that I could let the doctors know what to order....since they werent initiating any of this on their own.

I think its important to be thorough.....with the genes being negative the chances for Celiac are pretty slim.....but if it were me I would pursue all of the testing.

[Rachel--24]

I didn't have my genes tested until 5 years after diagnosis. I am a double DQ9, not a currently recognized celiac gene IN THE US.

Do those celiacs with non-celiac genes recover on the gluten free diet, well in my case yes. Has my return to health been total, of course not. It took almost my whole life to diagnose me. My nerve damage began at about age 5 when I lost my reflexes and balance and was covered in DH (diagnosed as poison ivy in my blood stream). Have I been able to resolve most of my health issues including nerve and brain damage? I would say my recovery was really good and if I had been diagnosed before 15 years of daily D damaged my system to say nothing of all the toxic drugs I was on it might have even been a complete healing.

RWG,

The thing is....non celiac gluten intolerance can cause severe damage as well...take a look at Autism for example. Just because there is improvement while on the diet does not automatically indicate Celiac Disease. There are all of these other conditions which can damage the gut allowing for gluten to enter the bloodstream and cause problems.

Its the people with leaky gut who experience the most damage OUTSIDE of the gut....this however, is not the same as Celiac Disease...and it is most often caused by other factors. Celiac can also be a cause for leaky gut....but in those cases gluten free resolves it (unless there is some other issue).

Personally, I feel that if additional tests were run there would be some underlying issues that can be attributed to the problems you've had. But thats just my own opinion.

Thats the thing about people without the Celiac genes....even though they feel much better having eliminated gluten.....they do not make a full recovery. In cases where leaky gut is the problem gluten can cause significant neurological symptoms....again, we can see this very clearly in the autistic population...BUT...in most cases it has nothing to do with Celiac Disease. The problem is caused by other factors which has led to increased intestinal permeability....allowing gluten, casein, pathogens and toxins of all kind to enter the bloodstream.

This can obviously cause plenty of damage which does not resolve 100% with the removal of the most problematic food proteins.

Many autistic children make tremendous gains while on the gluten-free/cf diet....the improvements are quite remarkable. However, noone is claiming that all of these kids have Celiac Disease. In reality, its only a small portion who actually do have the disease. The incidence of Celiac is not any higher in the autistic population than it is in the rest of the population. The reason for improvement is pretty well understood and the diet is only a part of the recovery process.

There are some here who will say that they can eat gluten forever and cause severe damage to their body.....yet NEVER test positive for the disease. These are the people who dont carry the main genes. I think the reason they wont ever test positive is because they dont actually have Celiac.....they are not genetically susceptible.

[gfpaperdoll]

A friend of mine has double DQ1, & she had a positive biopsy & she also has osteo & HS. she is much better on a gluten-free diet & she is also dairy free - except like me, she will occasionally eat dairy when dining out etc.

It turns out that one of her DQ1 genes is the allele 0501, which I think they now think is part of a DQ2 gene.

My sister had positive blood work - no biopsy, she was also double DQ1 & she has the same gene 0501. She was completely better on the diet - no dairy for her either, she already knew that. But she had lost her only son, a doctor, in an accident, & was only gluten-free for 3 months. Her husband was not supportive. Now her arthritis is back, she did say that she is somewhat okay if she takes a probiotic everyday. I do not think she eats much wheat.

The problem is that really no one knows much of anything about our problem with gluten. So yes we have to look at additional things, in addition to being gluten free. I think that they gluten is the beginning of all problems but then you also have candida, etc etc. & you have to keep studying about the oxalates, glutamates, the other "...ates" the lectins, the nightshade veggies, pesticides, mold, yeast, dairy, soy etc etc. the SCD diet, the Paleo way of eating...

I think that one reason that I cannot eat potatoes has something to do with where they are grown, almost all areas are contminated with arsenic. Then there is the mold issue...

[ravenwoodglass]

Personally, I feel that if additional tests were run there would be some underlying issues that can be attributed to the problems you've had. But thats just my own opinion.

There are some here who will say that they can eat gluten forever and cause severe damage to their body.....yet NEVER test positive for the disease. These are the people who dont carry the main genes. I think the reason they wont ever test positive is because they dont actually have Celiac.....they are not genetically susceptible.

There are now 7 more genes other than DQ2 and DQ8 linked to celiac. You should consider googling '7 new celiac genes' lots will come up.

Since all of my autoimmune issues have resolved and only rear their ugly heads when I get glutened, and since the primary problem I have left is gluten ataxia, something that it is not unusual to have not resolve, and since my GI issues have resolved, and yes I did have to eliminate soy and dairy for that to happen, what other testing do you reccommend?

I have had MRIs, they found the UBO's that in other countries are diagnostic of celiac but my neuro was clueless, I have had evoked potentials, allergy testing, enough blood testing feed a city of vampires, stress testing on my heart which showed thickening of the walls from years of inflammation, Xrays, CT scans, well I could go on. It has been well researched that up to 30% of those with celiac, even in the end stages will show negative on blood testing. If I were you I would keep my gene panels handy, you yourself may have one of the previously unrecognized celiac genes, the reason why you still need the diet even though you don't feel you are yourself celiac.

We can not go off just the gene panels to either rule celiac in or out. Not enough is yet known.

[Rachel--24]

There are now 7 more genes other than DQ2 and DQ8 linked to celiac. You should consider googling '7 new celiac genes' lots will come up.

The thing is that most people who are diagnosed Celiac are diagnosed based on 'evidence' of the disease....meaning positive bloodwork or positive biopsy. The vast majority (somewhere around 97%) of those who have evidence of the disease....also have those genes (DQ2 or DQ8).

So even with other genes possibly being involved....its still going to be rare for someone to have Celiac without DQ2 or DQ8. The doctors arent running the gene tests before they're running the bloodwork and/or biospy....so its not like those who arent DQ2 or DQ8 are being pushed aside because they dont have a main gene. They just arent testing positive for Celiac Disease.

Obviously, if these people were testing positive with all of these other new Celiac genes.....we wouldn't have such a high percentage of DQ2 and DQ8's.

I have had MRIs, they found the UBO's that in other countries are diagnostic of celiac but my neuro was clueless, I have had evoked potentials, allergy testing, enough blood testing feed a city of vampires, stress testing on my heart which showed thickening of the walls from years of inflammation, Xrays, CT scans, well I could go on.

I had all of that as well....and in a very short time span. I had the MRI, the CT scans, the ultrasounds, the endoscopy, colonoscopy, endless bloodwork, x-rays...etc. None of it showed anything. Then I decided to leave my HMO...and I decided to see some of the doctors who test for many of the things which Western Medicine doesnt have anything to do with. Thats when things started to show up.

So, the reason that all of my previous tests were negative was because they weren't running the tests that I needed. I didnt have any of the diseases I was tested for (including Celiac)....therefore my results were negative. Everything was negative.

You can take a severely autistic child to the doctor....and have all of these same tests run....and more than likely that child will 'appear' to be fine.....even though he's obviously not. So...it all depends on what they are looking for. The problems that are identified in autistic children are not anything that your normal Dr. is going to know anything about. Thats why they are treated by Dr.'s who are outside of the mainstream.

In my case...the mainstream doctors were looking in all the wrong places. It happens all the time.....people have normal test results...even though they are clearly not feeling well. If my testing for MS was negative....I'm not going to assume that I have it. If my testing for Myasthenia Gravis was negative...I'm not going to assume that I have it. If my testing for Celiac was negative (including genes)....why should I assume that I have it??

It has been well researched that up to 30% of those with celiac, even in the end stages will show negative on blood testing.

Does this mean they are having positive biopsies?? Because thats STILL a positive test for the disease. I had both....bloodwork and biopsy. My personal opinion is that people should have both.

We can not go off just the gene panels to either rule celiac in or out. Not enough is yet known.

I have never said that we should go off of genes alone. I've always said that testing is very important. I strongly urge people to have ALL of the tests run...that means all 5 bloodtests + endoscopy + genes if necessary. If everything is negative...then the chances for Celiac are very slim.

I see alot of people here with negative everything....neg. bloodwork....neg. biopsy....and negative genes....and yet they are still being told they may very well have Celiac Disease. Personally, I feel that this can be very misleading and even dangerous if they have another condition which is undiagnosed. I think people should be encouraged to continue to look for answers when all tests are negative. But thats just me.

Trying out the diet is one thing....theres no harm in that. However, there can be alot of harm in self-diagnosing a disease that may not actually be the real issue.

If I were you I would keep my gene panels handy, you yourself may have one of the previously unrecognized celiac genes, the reason why you still need the diet even though you don't feel you are yourself celiac.

I've actually been off of the diet since last December.....so its been about 7 months now. I have other issues that I'm dealing with. I still have ALOT of foods that I cant tolerate.....gluten is not my biggest problem. Enterolab might have initially led me to believe that gluten was the cause for all of my issues....however, that was not the case.

[ravenwoodglass]

The thing is that most people who are diagnosed Celiac are diagnosed based on 'evidence' of the disease....meaning positive bloodwork or positive biopsy. The vast majority (somewhere around 97%) of those who have evidence of the disease....also have those genes (DQ2 or DQ8).

So even with other genes possibly being involved....its still going to be rare for someone to have Celiac without DQ2 or DQ8. The doctors arent running the gene tests before they're running the bloodwork and/or biospy....so its not like those who arent DQ2 or DQ8 are being pushed aside because they dont have a main gene. They just arent testing positive for Celiac Disease.

Obviously, if these people were testing positive with all of these other new Celiac genes.....we wouldn't have such a high percentage of DQ2 and DQ8's.

I had all of that as well....and in a very short time span. I had the MRI, the CT scans, the ultrasounds, the endoscopy, colonoscopy, endless bloodwork, x-rays...etc. None of it showed anything. Then I decided to leave my HMO...and I decided to see some of the doctors who test for many of the things which Western Medicine doesnt have anything to do with. Thats when things started to show up.

So, the reason that all of my previous tests were negative was because they weren't running the tests that I needed. I didnt have any of the diseases I was tested for (including Celiac)....therefore my results were negative. Everything was negative.

You can take a severely autistic child to the doctor....and have all of these same tests run....and more than likely that child will 'appear' to be fine.....even though he's obviously not. So...it all depends on what they are looking for. The problems that are identified in autistic children are not anything that your normal Dr. is going to know anything about. Thats why they are treated by Dr.'s who are outside of the mainstream.

In my case...the mainstream doctors were looking in all the wrong places. It happens all the time.....people have normal test results...even though they are clearly not feeling well. If my testing for MS was negative....I'm not going to assume that I have it. If my testing for Myasthenia Gravis was negative...I'm not going to assume that I have it. If my testing for Celiac was negative (including genes)....why should I assume that I have it??

Does this mean they are having positive biopsies?? Because thats STILL a positive test for the disease. I had both....bloodwork and biopsy. My personal opinion is that people should have both.

I have never said that we should go off of genes alone. I've always said that testing is very important. I strongly urge people to have ALL of the tests run...that means all 5 bloodtests + endoscopy + genes if necessary. If everything is negative...then the chances for Celiac are very slim.

I see alot of people here with negative everything....neg. bloodwork....neg. biopsy....and negative genes....and yet they are still being told they may very well have Celiac Disease. Personally, I feel that this can be very misleading and even dangerous if they have another condition which is undiagnosed. I think people should be encouraged to continue to look for answers when all tests are negative. But thats just me.

Trying out the diet is one thing....theres no harm in that. However, there can be alot of harm in self-diagnosing a disease that may not actually be the real issue.

I've actually been off of the diet since last December.....so its been about 7 months now. I have other issues that I'm dealing with. I still have ALOT of foods that I cant tolerate.....gluten is not my biggest problem. Enterolab might have initially led me to believe that gluten was the cause for all of my issues....however, that was not the case.

I agree with you totally that people that do not have a resolution of symptoms need to be evalutated for other problems. Celiac or gluten intolerance not only are not the cause of all and every issue but can be involved in the development or occur at the same time as many other issues.

When I answered your response to me about the genes I was speaking from my own personal experience. I do have a firm diagnosis of DH and celiac but I have also had numerous testings done prediagnosis to rule out other issues. My resolution of issues was profound with the gluten-free diet, my undiagnosed illness went on for many years prediagnosis and I was on a great deal of meds just to be able to do the bare minimum in my day. I watched a lot of drugs I was on taken off the market. None of them did much good. I know you can relate to that. I am glad for you that gluten as an issue has been firmly ruled out and I do hope that the rest of your issues continue to improve.

I was not diagnosed by Enterolab. I had Enterolab testing done 5 years after diagnosis because I had a severe reaction to a drug given to me by my GI during a routine procedure followed by an even more severe problem when he prescribed a different drug. This, it seems. was a direct cause of my problems with soy and casien, which I had no problem with before. In other words I believe the drug reaction caused a leaky, or more leaky gut which in turn caused me to react to the soy and casien. The issues that developed after that resolved with digestive enzymes and avoidence of soy and casien. I was not tested by Enterolab for gluten as I had been gluten-free for 5 years and myt reactions to gluten are strong and specific. I decided to throw the gene test in out of curiosity and because one of my children had her genes tested and was told she had no gluten issues because she didn't have the gene. She is now off the diet and attributing all issues to stress. Issues that previously resolved with the diet.

Not all people they diagnose with celiac, or gluten sensitivity have gene testing. I think some interesting results would turn up if they gene mapped us at diagnosis.

[linda7276]

The issues that developed after that resolved with digestive enzymes and avoidence of soy and casien.

Can you tell me more about the enzymes you used ravenwoodglass? Thanks, Linda

[ravenwoodglass]

Can you tell me more about the enzymes you used ravenwoodglass? Thanks, Linda

The drug reaction had basically really whapped my pancreas so at first I took pancreatin by Twinlab but once I stopped seeing all my food coming through undigested, which took a couple of weeks, I switched to Super Enzymes by NOW. I still take the Super Enzymes on days when I eat meat but no longer seem to need them with every meal.

[linda7276]

The drug reaction had basically really whapped my pancreas so at first I took pancreatin by Twinlab but once I stopped seeing all my food coming through undigested, which took a couple of weeks, I switched to Super Enzymes by NOW. I still take the Super Enzymes on days when I eat meat but no longer seem to need them with every meal.

Thanks Ravenwoodglass...I want to try to work on the malabsorption, and after reading other posts here about enzymes, I thought they would be helpful, but there are so many out there...just needed a place to start. The pancreatin sounds good, especially since there were a couple of indicators (malabsorption and hypoglycemia at the slightest amount of carbs) that maybe my pancreas isn't working the way it should. I'll check out their sites...thanks again...