This Celiac.com FAQ on celiac disease will guide you to all of the basic information you will need to know about the disease, its diagnosis, testing methods, a gluten-free diet, etc. Subscribe to FREE Celiac.com email alerts What are the major symptoms of celiac disease? Celiac Disease SymptomsWhat testing is available for celiac disease? - list blood tests, endo with biopsy, genetic test and enterolab (not diagnostic) Celiac Disease ScreeningInterpretation of Celiac Disease Blood Test ResultsCan I be tested even though I am eating gluten free? How long must gluten be taken for the serological tests to be meaningful?The Gluten-Free Diet 101 - A Beginner's Guide to Going Gluten-FreeIs celiac inherited? Should my children be tested? Ten Facts About Celiac Disease Genetic TestingIs there a link between celiac and other autoimmune diseases? Celiac Disease Research: Associated Diseases and DisordersIs there a list of gluten foods to avoid? Unsafe Gluten-Free Food List (Unsafe Ingredients)Is there a list of gluten free foods? Safe Gluten-Free Food List (Safe Ingredients)Gluten-Free Alcoholic BeveragesDistilled Spirits (Grain Alcohols) and Vinegar: Are they Gluten-Free?Where does gluten hide? Additional Things to Beware of to Maintain a 100% Gluten-Free DietFree recipes: Gluten-Free RecipesWhere can I buy gluten-free stuff? Support this site by shopping at The Celiac.com Store.For Additional Information: Subscribe to: Journal of Gluten Sensitivity
I am on the fly and will come back with a more thorough reply but a few things. . .
Yes, I am on a sort of hybrid paleo/Mediterranean/anti-inflammatory diet. I do not eat any grains, which made a huge difference for me all the way around, but I do eat yogurt (all other dairy I avoid). It's been quite a journey to figure out what my body does and does not tolerate and it certainly sounds like your experience is similar in that regard. I am still continuing to learn and sort things out; luckily these days I am getting foods back versus the opposite.
It does sound like your SIBO hydrogen breath test was botched unfortunately. Those sorts of tests are kind of iffy to begin with so it is never a bad idea to re-evaluate periodically!
Reading your signature, I see that you have noticed some improvement on a low histamine diet? Out of curiosity have you ever had food allergy (IgE) skin tests (aka scratch tests)? If so, do you remember if you might've reacted to the 'control'? The control is typically just concentrated histamine, and thus may shed some light on a possible connection.
The elevated eosinophils in your colon are certainly suspect. . . Is your new doctor by chance willing to do a repeat colonoscopy with biopsy to look for further evidence of eosinophil infiltration (or lack thereof given your elimination diet)? Otherwise, would s/he repeat the colonoscopy + biopsy after a trial course of steroids/immunosuppressives?
How far are you willing to travel? There is a wonderful restaurant in White Rock, BC (5-10 minutes from the border and near the water: beautiful!) called Uli's. I've been there many times and have had no issues, despite being super sensitive to gluten CC. It is one of only a handful of places I can eat with no ill-effects. They do a fantastic job! http://www.ulisrestaurant.com
If you decide to try it, I highly recommend their flourless chocolate torte. . .
Here are two really good links (particularly the second one) that may help explain 23andme's weird reporting system as it relates to the more common DQ type nomenclature:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2386975/#!po=53.1250 – This is actually a study. Very informative and interesting if you choose to read through the whole thing. However, if you skip to page 10 and click on table 3, you'll find a list of the celiac related DQ types, their SNP tags as well as risk alleles. I'm not sure if 23andme is still testing for all of these SNP tags, but the DQ2.2, DQ2.5 and DQ8 tags still work for me (my chip is from last September/October). I suggest referencing the first link for DQ2.2, because I think they've since updated one of the tags.
As others have said, 23andme only looks for DQ2.5 when establishing celiac disease risk, however they are also reporting on a few other SNP's (from different chromosomes or different parts of chromosomes, so non HLA-DQ types) that may be associated with celiac. Their studies and any they cite on these other genes/risk factors have yet to be validated.
This seems to come up a fair amount, thus I thought it might be helpful to have a collection of relevant information all in one spot. [if you are only looking to interpret your results, skip down to the asterisks.]
Per current knowledge, if you do not possess any of the celiac genes you are not considered to be at risk for developing the disease at any point in your life. It is for this reason that doctors have begun testing for the genes more and more in situations where the diagnosis is unclear, or to establish risk in family members of persons with the disease. However, there have been rare cases where people have been found to be suffering from celiac disease despite not having the genetics to support the diagnosis. And if that is not confusing enough, the University of Chicago Celiac Disease center acknowledges that it is not impossible to have Dermatitis Herpetiformis (DH - the celiac rash) without the celiac genes, as well:
"Is it possible to have dermatitis herpetiformis (DH) without having the genes for celiac disease?
It's extremely unlikely to have dermatitis herpetiformis (DH) without the genes for celiac disease, but not impossible. (http://www.cureceliacdisease.org/archives/tag/dermatitis-herpetiformis/page/2)
So, doctor's frequently are using genetic tests as a means to rule-out celiac disease. There is one main issue with doing this: the comprehensiveness of testing is widely variable! Some physicians test for all of the celiac-related genes, while others only look for one variation.
Essentially, if you do not have the celiac genes but have reason to suspect you are suffering from celiac disease, pursue further testing (via blood and/or endoscopy) prior to going gluten free.
***To the nitty gritty...
More often than not (especially if you ordered the tests through your doctor), you'll end up with a piece of paper with lots of numbers and the words present or absent after them. What does it all mean? Briefly,
HLA-DQA1 *0501 + HLA-DQB1 *0201 = HLA-DQ2.5. (A1 and B1 simply refer to different parts. They are alternatively referred to as the alpha and beta portions) This is the most common haplotype found in celiacs, although it is also very prevalent in non-celiacs as well: up to 30% of the US population (higher in Europe) might have the A1 and/or the B1 portion of this haplotype! It is thought to confer the highest risk, especially when the individual is homozygous (possesses two copies).
HLA-DQA1 *0201 + HLA-DQB1 *0202 = HLA-DQ2.2. This haplotype occurs in lower frequencies across the world and is also less common in celiacs. It is thought to confer a potentially 'lower disease risk'. It is important to note that low risk does not equal no risk: this haplotype can mediate celiac disease by itself. Sometimes the A1 or B1 portion of DQ2.2 combines with the A1 or B1 portion of DQ2.5 which confers a marginally higher risk than DQ2.2 alone.
HLA-DQA1 *0302 + HLA-DQB1 *0202 = HLA-DQ2.3. As far as I know, DQ2.3 is very similar to DQ2.2. The tests do not often differentiate between the two.
As mentioned above, HLA-DQ2.5 and HLA-DQ2.2 (their alpha and beta portions) may combine with each other in any number of amalgamations, or they may independently combine with other celiac genes (DQ8, DQ7.5), or genes unrelated to celiac disease (DQ5, DQ6,...).
HLA-DQA1 *0301 OR HLA-DQA1 *0302 + HLA *0302 = HLA-DQ8.1 DQ8 is a less frequent variation worldwide, and thus it is also occurs in smaller numbers within the celiac population. 96+% of celiac's have some form of DQ2 or DQ8.
Just like DQ2.5 and DQ2.2 may union with other celiac gene variations, DQ8 can do the same thing.
Some celiac genetic tests report on DQ7 and others don't. If they do, it is almost always the alpha portion of DQ7.5:
HLA-DQA1 *0505. This is part of DQ7.5 and may combine with HLA-DQB1 *0202 (2.2) to raise the risk of celiac in a similar way as HLA-DQ2.5 does. Or, it may combine with HLA-DQB1 *0201 (2.5), which also raises the risk [marginally]. DQ7 can be involved in celiac disease separate from DQ2 as well, but the relationship is not quite as well known as in DQ2 or DQ8.
If you have any of the variations under the DQ2 or DQ8 headings, you have a celiac gene. This, however, does not mean you have or will develop the disease. Up to 40% of the US population possesses a celiac gene, but only 1% will go on to develop the disease. Listed below are a few things that will further raise your likelihood [non-comprehensive]:
Having an immediate family member with the disease.
Having Type 1 Diabetes.
Having autoimmune thyroid disease.
Having a different autoimmune disease, yourself.
Also: a genetic test is not fully comprehensive unless and until it includes all of the alpha and beta variations of DQ2 and DQ8 (listed under their constituent headings above). I am hesitant to include DQ7 in the former statement as I feel there is still more research to be done to further elucidate its involvement with celiac disease. If your genetic results reveal that certain celiac genes are absent, but not all of the variations were tested, you can conclude that your risk of celiac is lower (because it is less likely you will have the more uncommon gene variations), but not non-existant. Gene testing can be a very helpful tool, but rarely the be-all and end-all.
I so hope this was helpful to read through! Thanks and best wishes,
A few "extras":
For those interested: HLA = Human Leukocyte Antigen. HLA is found on a portion of the Major Histocompatibility Complex (MHC) located on chromosome 6. The MHC is frequently discussed/implicated in autoimmune diseases because it houses a large quantity of genes integral to the functioning of the immune system. DQ is a receptor type protein. Roughly, DQ2 and DQ8 can produce a specific kind of protein that, when 'turned on', may begin binding to gliadin (gluten). This bound protein is what the body reacts to, therefore resulting in the autoimmune response characteristic of celiac disease.
The wikipedia page has a nice table which lists all of the DQ types – very helpful for interpretation of non-celiac related genes: http://en.wikipedia.org/wiki/HLA-DQ
More explanation of the role of DQ7 in celiac: http://celiacdisease.about.com/od/celiacdiseaseglossarygl/g/Hla-Dq7.htm
DQ9 has been associated with celiac in asian populations. I am not sure if the studies have been replicated as of yet or where they are in their research on this: http://celiacdisease.about.com/od/celiacdiseaseglossarygl/g/Hla-Dq9.htm
It looks like you have HLA-DQ9 as well as HLA-DQ6. The problem with the enterolab genetic tests is that they are not fully comprehensive as they only look for the beta unit (the B1 part) of a particular gene and not the alpha unit, therefore they cannot be used to determine whether celiac can be ruled out on the basis of genetics. In other words, the beta unit and alpha units tend to correspond (beta DQ9 tends to go with alpha DQ9 so on and so forth..), but that is not always the case: one could have beta DQ9 and alpha DQ8 (DQ8 being a 'celiac gene').
In some studies DQ9 has been found to be associated with celiac in the asian population, but I'm not sure if those studies have been replicated or where they are with it. You might do some googling if you are interested.
You are correct that NCGI does not result in an autoimmune reaction (per current knowledge). Unfortunately there is very little known about the role of elevated TTG antibodies in the stool, thus making it hard to draw accurate conclusions from as kareng mentioned above.
Family history can sometimes be helpful in situations where the diagnosis is unclear, particularly if you have other autoimmune diseases or if they run in your family. If you don't care so much about getting the 'right' diagnosis and plan to be 100% gluten free, I'd try eliminating some of those foods and see how you feel. I'd also add a good probiotic if you haven't and maybe think about digestive enzymes. Both of those were tremendously helpful to me along the way!
Potentially not. Though I imagine it might be if you were to end up positive for one or more of the celiac genes! A shot in the dark, kinda. Even so, if you have the resources and would prefer to avoid going through a doctor (which it sounds like), I would encourage you to get it done: it could end up being an important piece of the puzzle.
Usually the beta and alpha units correspond with each other: if you have beta DQ2 present you are more likely to have alpha DQ2 present as well, however that doesn't always happen. Celiac can be observed in individuals with positive alpha and beta 'celiac genes' (DQ2, DQ8) or positive for either the beta portion or the alpha portion of those celiac genes. So theoretically, if you go through enterolab and it shows that you do not possess the beta units of DQ2 or DQ8 that does not exclude the possibility of having either of the alpha portions of those genes. In other words: it does not rule out celiac.
On the other hand, if you do come up 'positive' through enterolab there's really no need to know the alpha portion, IMO. Does that help at all?
I'm sorry to hear that you are getting more sensitive to gluten, though that seems to be par for the course for those of us with celiac or NCGI.
Personally, I would not (and did not, for that matter) go back on gluten for the tests because my quality of life is so much diminished. I want to spend as much time of my life feeling good! I figure as testing procedures continue to advance, there may be a point where we will not have to go back on gluten for accurate results. This is just me though. You have to decide how important and time sensitive it is for you to know whether you have celiac (which is a serious autoimmune disease and requires a strict gluten free diet for life) or not.
Regardless, your doctor is correct: since you've been off gluten for awhile the current celiac tests will not be as accurate. While the time frame varies from doctor to doctor, it is generally accepted that you'd have to eat at minimum the equivalent of two slices of bread each day for 6-8 weeks prior to the endoscopy with biopsy – longer for the blood tests – in order to have a chance at catching any damage.
I hope this helps – I wish it were more clear cut! Keep us posted.
@Cindy, having the genes plus symptoms can only give cause for further investigation via blood test and/or endoscopic biopsy. Both of those would require you to remain on gluten for accurate results. If you have family members with celiac or other kinds of autoimmune diseases, especially Type 1 diabetes and Hashimoto's thyroiditis, that could increase the likelihood that you are dealing with celiac vs. non-celiac gluten intolerance (NCGI). Also, symptoms of malabsorption (vitamin and mineral deficiencies, etc.) may suggest an autoimmune cause (celiac) vs. NCGI, though some people with NCGI do have malabsorption too. (Not so much is known about the etiology and potential ramifications of NCGI as of now!)
Ultimately though, if you haven't had the blood tests or endoscopic biopsy I would encourage you to pursue them, particularly if you are planning to try going gluten free! For so many of us we end up in a bind because gluten free makes us feel so much better and thus, we end up not wanting to go back on it just to get tested.
Bottom line: there's really no way to know whether you have celiac vs. NCGI (or something entirely different) definitively based upon symptoms and gene results without further celiac testing. I really wish there was, as that could potentially make diagnosis much less confusing! By the way, your doc is pretty awesome for ordering such a thorough celiac gene test..
Ps – In case you are interested, the full celiac antibody blood panel includes:
Total serum IGA
Tissue Transglutaminase (TTG) IGG
Deamidated Gliadin Peptide (DGP) IGG
Endomysial Antibody (EMA) IGA
All of the above are variations of what are considered the "celiac genes" (HLA-DQ2, -DQ8 and -DQ7).
HLA-DQB1 *0201 + HLA-DQA1 *0501 make up the HLA-DQ2.5 haplotype. This is the most common haplotype in celiac disease and is said to confer the "most" risk. However, this haplotype is also generally pretty common across the U.S. (and it occurs in higher frequencies in Europe) as well. A1 and B1 just refer to different parts of the allele.
HLA-DQB1 *0302 + HLA-DQA1 *03XX make up the HLA-DQ8 haplotype. Most celiac's who do not have HLA-DQ2.5 have the HLA-DQ8 haplotype instead. HLA-DQ8 worldwide, is not as common as DQ2.5, but having it does not necessarily mean that one has celiac.
HLA-DQA1 *0505 is part of HLA-DQ7. This can combine with HLA-DQB1 *0202 and raise the risk of celiac in a similar way as HLA-DQ2.5 does. Or, it may combine with HLA-DQB1 *0201, which also raises the risk [marginally]. DQ7 can be involved in celiac disease separate from DQ2 as well, but the relationship is not quite as well known as in DQ2 or DQ8.
HLA-DQA1 *0201 + HLA-DQB1 *0202 is the HLA-DQ2.2 haplotype. This is also considered to be a "celiac gene" although it is thought to confer a lower risk than other variations such as DQ2.5. However, low risk is not no risk and there does exist a good percentage of celiacs with DQ2.2 without DQ2.5. Clear as mud?
It looks like you are positive for HLA-DQ2.2. Essentially this only means that you may or may not develop celiac at some point in your life. Have you had the celiac antibody tests run?
I know you have said that you are IGA deficient, I am wondering if the doctors have looked at serum quantities of the other immunoglobulins (namely IGM and IGG)? Common Variable Immunodeficiency (CVID) can cause some GI issues and malabsorption if there is also damage in the small intestine. Here is a good resource for more in depth information: http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/common-variable-immune-deficiency/ Something to consider if you haven't already, especially if you get sick frequently and/or severely.
If you do have low IGG along with the low IGA that can make the celiac blood tests a bit trickier as you wouldn't be making a normal amount of antibodies to begin with.
Totally understand your concern, however MTHFR is well studied by MD's as well. I encourage anyone who has questions about the validity of either of the Dr.'s I have mentioned to do a PubMed (or equivalent) search. I do not agree with everything they say, but have found some helpful information. I am only reporting what has worked for me. (I have been working with my MD's and monitoring B12 levels as well as a few others.) It has really made a huge difference, and while the latter is anecdotal, I figured it might also be able to help the OP. Apologies if it has caused additional confusion or harm.