Help with understanding genetic results

[Dkfusion]

Hi,

 I was wondering if some of the other better educated people on this forum can help me understand the genetic testing results that I received. My doctor just told me that I have the genes that can cause celiac, but never discussed exactly which ones.

In my lab results page I have 2 test results

The first one says : DQ Beta 1.  02:02,03:02  DQ Serological Equivalent : 2,8

The 2nd one says DQ Alpha 1. 02:01,03

I have tried to google the results, but have not had much luck with explaining which ones they really are. I have read that if it is the DQ1 then it more than likely means non-celiac gluten sensitivity, but if it is DQ2 or DQ8 then it can be celiac with a biopsy test.

 

Thank you.

[cyclinglady]

I am not a genetic expert and I have personally never had the test as antibody and biopsy testing determined my celiac disease diagnosis.  

I do know from my research that about 40% of the population has the genes to develop celiac disease but only a tiny fraction actually goes on to develop it.   It is usually used to exclude celiac disease not to diagnose it.  Plus, there is NO test to diagnosis Non Celiac Gluten Sensitivy

Why did you have the genetic test done?  Are you on a gluten-free diet and therefore can not do the standard celiac tests?  Are you considering a challenge?  Here are the tests: 

Open Original Shared Link

i hope this helps!  

[Dkfusion]

Hi,

 I had the test done at Mayo.

I was on a gluten free diet based off of a diet that my allergist had put me on after he diagnosed me with silent reflux (for a few years I had issues of chronic coughing during the fall and winter months). He put me on a very low carb diet, to which research showed that a low carb diet, which was a modified Keto diet helped keep reflux symptoms away. Since the carb intake was to be no more than 20 carbs per day, I had naturally eliminated gluten as I did not want to waste my carbs on gluten based products.

My daughter had gotten diagnosed with Celiac almost a year after I started on my "reflux diet". The doctor that diagnosed my daughter suggested that my wife and I get tested. I then went to my primary doctor to start the testing. The first time I was told to eat a normal gluten based diet and get the blood test after a week, this was after being gluten free for a bit over 10 - 11 months. I did not think that was correct so I checked with my gastro doctor and he said 4 slices of bread for a month. The 4 slices were extremely miserable and after the month I had the blood test to which my primary doctor said that it was negative and I dont have celiac disease or any gluten based issues. I then went for a 2nd opinion and was told to eat a slice of bread a day for 8 weeks then have the biopsy. the first week or so went by ok, with some abdominal discomfort. I then had to have shoulder surgery to which I was put on hydrocodone for about 5 weeks or so (the first 3 weeks I was taking the hydrocodone at least 2 times a day, the remaining time I was only taking it at night). I had noticed that the hydrocodone has suppressed all abdominal discomfort and had suppressed the diarreah that had started shortly before my surgery. After I was done with the hydrocodone all the symptoms came back with full force. While on the hydrocodone I did have some symptoms such as feet, ankle and calf swelling, confusion, weight gain, bloating and some severe fatigue. After the hydrocodone some bad abdominal pain, a quite a bit of diarreah, social withdrawl,chronic cough,inability to breathe through my nose, mild depression, more weight gain, mood swings and my knees hurt more than they did before (to which I was diagnosed with arthritis in my shoulders and my knees, and I am not even 40 yet). I had the biopsy and the results were "Increased intraepithelial lymphocytes with normal villous
architecture can be seen in symptomatic, latent or partially treated
gluten sensitivity (celiac sprue), dermatitis herpetiformis, and
first degree relatives of gluten sensitivity. Other associations
include systemic autoimmune disorders and NSAID use."

My concerns are was 8 weeks long enough, and was it enough gluten. Did being on the hydrocodone have any negative impacts on the test. I was also instructed to redo the blood tests, but I had quit eating gluten again after my biopsy which has now been close to 2 weeks. Per a video that I saw from Dr Murray at Mayo Clinic said that if you had been gluten free for as little as a week, the blood test will be flawed.

[cyclinglady]

Wow!  You have been through diagnostic hell!  

I am not a doctor, but I do not think that pain medication would impact your celiac disease results.  You are right that as little as two weeks can change the outcome of celiac disease antibodies testing.  

So, are you just going to assume you have celiac disease?  Obviously, the gluten-free diet helped you in the past.  Your daughter has been diagnosed.  I think the 8 weeks of gluten was enough.  Remember, damage is easy to miss during a biopsy but it appears that you had some changes that were consistent with celiac disease (beginning stages perhaps since you had been gluten-free for so long).  Your PCP probably thought that your entire celiac panel had to be positive (only need one of them to be positive to pursue an endoscopy).  Obviously, he knew nothing about testing for celiac disease and would not have even suggested it without the typical 8 to 12 weeks of gluten.  

I would ask for a diagnosis of celiac disease.  In any case, you should go gluten free for life.  That's my opinion.  I would recommend telling your siblings/parents to get tested as well.  It's on your side.  I recommend the complete panel, because as good as the TTG screening test is, it does not catch all celiacs.

My hubby was advised 15 years ago to go gluten free.  It worked.  He refuses now to do a challenge.  Then 12 years later, I was formally diagnosed.  We are a gluten free house.  Our kid must get her gluten fix outside the house!  Testing for her is easy.  She is negative so far.  I suppose, to prevent more testing, I should ask for the genetic test.  I kind of feel that she has the genes anyway.  Both sides of our family are riddled with AI issues.  

I hope you feel better soon!  

[Dkfusion]

Hi,

 Yes, I have for sure been through the ringer. It is at the point that my co-workers now request that if I ever have to do another gluten challenge that I either work from home the entire time, take a medical leave or find a new job. My wife does not want to deal with me on the challenge either as she said that I have extremely bad mood swings once I get a week or so into the challenge. The interpretation that i received from the biopsy was a diagnosis of "possible celiac, since there is no smoking gun per se". After dropping the gluten and going gluten free again, I saw the scale drop 14 lbs in 2 weeks and the swelling in my feet and ankles almost gone. I would like the diagnosis of Celiac, but my guess is without the concrete evidence they will either label me as non-celiac gluten sensitivity or nothing at all. To me, I really want a for sure, 100% confident answer. Some say that I am crazy for even thinking of doing yet another challenge, or even doing the 2nd one that I did, but I had reasons. The main one being is if I get the diagnosis of Celiac, then in my medical chart it gets listed as that I have an allergy to gluten. I cannot then receive any medications that have gluten in them, where if I have a sensitivity I dont think it will be as strict. If I were to ever get admitted to the hospital again, the dietary orders will be strictly gluten free due to the listing of the allergy, where as the latter not so much. I also have extremely stubborn family that say that because they dont experience any symptoms they dont have any issues and see no need to get tested and so far since only my daughter has it, there is always the chance that she could have gotten it from my wife. While I know that all of that is not true at all and in the case of many others and especially my daughter, she was completely symptom free while she ate a normal gluten diet, which is one thing that I have a hard time pounding into their heads. Now, if I were to have it then the chances that they could have the genes or even actually have it go up