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Genetic Testing

celiac hashimotos genetic hla biopsy gliadin help advice

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Posted 18 July 2014 - 06:13 AM

Hello everyone!! Still on my journey to figure out what's going on with me! I've had a positive gliadin IgG test, negative gliadin IgG, Negative tissue transglutaminase IgG/IgA... Negative biopsy, it showed inflammation and lymphocytes infiltrating the epithilium but no issues with the villi... After I went gluten free for a month and felt great... Reintroduced and all my aches pains and respiratory issues came back I didn't think I had any GI issues but when I reintroduced I realized it made me constipated.... Now I had the genetic testing done and my HLA-DQB1*02 and HLA-DQB1*03:02 were negative but HLA-DQA1*05 is positive. Report says this is rarely observed in individuals with celiac and that it is only mildly supportive of a clinical diagnosis of celiac disease..... I know I should just go gluten free cause it makes me feel better... But I would have really loved a yes you have this or a no you don't 😔 I still feel like it's all up in the air!!
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Posted 18 July 2014 - 06:55 AM

Look into it, isn't this a phase 1 presentation of celiac with lymphocytes and inflammation being present?  IT is my thought that you caught it early before the damage to the villi is major, or they may just have took the biopsy's from a healthier place.  I still am trying to think of the name of the scale that phase 1 refers to.  Aside from looking it up yourself using a pathology report you can seek a second opinion about it.


Marsh Scale.  Sorry, I am suffering from too much sedatives in my colonoscopy the other day.  They had to use extra!


Best wishes for healing.



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Posted 18 July 2014 - 08:44 AM

It's possible that you have non-celiac gluten sensitivity (NCGS).  Some doctors think the AGA tests can be positive for those with AGA some of the time, although not as much as with celiac disease.  Those with NCGS will not have major villious atrophy but may show some changes (although I think it sounds like early celiac disease).  Only half of those with NCGS will have the DQ2 and DQ8 genes unlike the 97+% frequency in those with celiac disease. NCGS is about 6 times more common than celiac disease .


Unfortunately the only way to diagnose it is with a positive response to the gluten-free diet.  If all of your testing options are exhausted, you might as well start the diet. Keep a food and symptom journal and discus it with you doctor, and he may diagnose you with NCGS.


And son't let anyone tell you that NCGS is a lesser disease than celiac disease.  Almost all of the symptoms are the same, and I've talked with many with NCGS who have had more extreme reactions to gluten, but they are less likely to develop other autoimmune diseases, and don't get the dh rash or intestinal damage.  They can both be nasty diseases.  :(


Best of luck to you in whatever you decide to do.

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Posted 18 July 2014 - 10:56 AM

SPinch03 ~


I am on the journey with you.


Had an endo with a colonoscopy on May 8th. All biopsies were "normal" and my doc took quite a few & then requested they be "sliced".


Took the transglutaminase blood tests previously to having the endo (while still eating gluten). IGA was elevated, IGG was in normal range. 


Asked for genetic marker tests to be done. Both my gastro & primary docs balked but ordered them up for me anyway. After 4 weeks, I'm still waiting for my results to be read. They have arrived at both docs' offices but my primary doesn't know how to read them, so is not willing to show me the results. She's waiting on my gastro's interpretation but he's been on vacation for the past week. My primary only works three days a week, so between the two of them I've gotten no answers to anything! It's very frustrating!  


In the meantime, I've been eating gluten-free since my colonoscopy prep May 7th and am feeling so much better! Like you, SPinch03, I too would like to have some kind of diagnosis from all of these tests! Chances may be that I am NCGS but I'd still like to rule out celiac, if at all possible. If I have the gene marker(s), I want my family to know so they can be tested. That's part of the reason I am trying so hard to get a definitive answer.


Unfortunately, I'm not feeling very confident in my two docs right now and am thinking of taking my test results to a doc who deals with celiac more often. I live in a small area, so we don't have the specialists that the larger areas do. Can anyone here recommend a knowledgeable celiac doc in CA? I live along the Central Coast & can travel in either direction. Thanks!


Good luck, Spinch03. Update when you can.

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Posted 18 July 2014 - 01:26 PM

Can anyone here recommend a knowledgeable celiac doc in CA? I live along the Central Coast & can travel in either direction. .

You'd probably get more help if you start a new thread in the doctors section. Good luck to you!
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Posted 18 July 2014 - 05:25 PM

Having the gene for celiac does not diagnose it anyway.


A negative biopsy and a negative blood test are far more telling. 



Up to one third of the U.S. population 
has the genes for celiac disease, but it 
is thought that only 1-4% of them will 
actually develop the disease at some point 
in their lifetimes. This means that people 
with DQ2 or DQ8 can develop celiac 
disease, but the vast majority of them 
aren’t destined to develop it. 

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Misdiagnosed for 25+ years; Finally Diagnosed with Celiac  11/01/10.  Double DQ2 genes. This thing tried to kill me. I view Celiac as a fire breathing dragon --and I have run my sword right through his throat.
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Posted 18 July 2014 - 07:54 PM

You'd probably get more help if you start a new thread in the doctors section. Good luck to you!

Thanks for the suggestion, I will head over there.

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