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Diagnosing Celiac Disease is Far from Straightforward


Celiac.com 05/25/2011 - Perhaps because celiac disease presents clinically in such a variety of ways, diagnosing it often takes an inordinately long time. A serological test positive for antibodies against tissue transglutaminase is considered a very strong diagnostic indicator, and a duodenal biopsy revealing villous atrophy is still considered by many to be the diagnostic gold standard. But this idea is being questioned; some think the biopsy is unnecessary in the face of clear serological tests and symptoms, and that patients should be spared it; others claim that the onset of celiac disease can predate the occurrence of villous atrophy, yielding a falsely negative misinterpretation of biopsy results.

To lend some clarity, a group of researchers in Romania analyzed the significance of genetic tests. It has been estimated that 98% of people with celiac disease have the DQ2 and DQ8 HLA haplotypes. But because these alleles are found in as many as 40% of the general population, they are considered more a prerequisite for developing celiac than a true positive indicator. However, they have high negative predictive value: their absence has traditionally been used to rule out a diagnosis of celiac.

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Samasca et al. looked at the HLA types of thirty-seven children with celiac disease confirmed by duodenal biopsy. Some also had confounding conditions like malabsorption syndromes, type I diabetes, and juvenile rheumatoid arthritis. Nine of the children were negative for the HLA DQ2 and DQ8 haplotypes. Of these nine, only two tested positive for the presence of anti tissue transglutaminase antibodies. One of them, a four year old boy, improved on a gluten free diet; the other, a 9 year old girl, did not comply with her gluten free diet, making it difficult to draw conclusions from her symptoms (notably an unsatisfying weight curve).

Based on these meager data, the authors conclude that the absence of DQ2 and DQ8 should not be used to exclude a diagnosis of celiac disease. Yet another, more plausible explanation might be that the few children in their study who lack these haplotypes as well as antibodies against tissue transglutaminase but still exhibit unspecified "changes on duodenal biopsy" might be suffering from gluten intolerance, which is mediated by an immune pathway less defined than the one leading to celiac disease. Still, their point that diagnosing celiac disease can be a complicated business is certainly a valid one.

Source:

  • Samasca et al. Controversies in the laboratory diagnosis of celiac disease in children; new haplotypes discovered. Romanina Archives of Microbiology and Immunology 69(3): 119-124, 2010.

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1 Response:

 
Courtney
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said this on
02 Jun 2011 5:03:27 AM PDT
This gives me hope!! Thank you Diana. I too have positive antibodies while eating gluten and negative when not. I test negative for the DQ2 and DQ8 as well, but after 3 months of going gluten free I was a different person. There are other immune disorders in which we don't need a positive genetic marker to be diagnosed with a specific genetic disorder so it seems only plausible that it would apply to Celiac as well.




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I'm in the Houston area so I'm assuming there are plenty of specialists around, though finding one that accepts my insurance might be hard. This might sound dumb, but do I search for a celiac specialist?? I'm so new to this and want to feel confident in what is/isn't wrong with my daughter. I'm with you on trusting the specialist to know the current research.

Hi VB Thats sounds like a good plan. Would it help to know that a frustrating experience in seeking diagnosis isn't unusual With your IGG result I'm sure a part of you is still wondering if they are right to exclude celiac. I know just how you feel as I too had a negative biopsy, but by then a gluten challenge had already established how severely it affected me. So I was convinced I would be found to be celiac and in a funny way disappointed not to get the 'official' stamp of approval. Testing isnt perfect, you've already learned of the incomplete celiac tests offered by some organisations and the biopsy itself can only see so much. If you react positively to the gluten free diet it may mean you're celiac but not yet showing damage in a place they've checked, or it may be that you're non celiac gluten sensitive, which is a label that for a different but perhaps related condition which has only recently been recognised and for which research is still very much underway. We may not be able to say which but the good news is all of your symptoms: were also mine and they all resolved with the gluten free diet. So don't despair, you may still have found your answer, it just may be a bit wordier than celiac! Keep a journal when you're on the diet, it may help you track down your own answers. Best of luck!

Run to the nearest celiac disease specialty center if you can. Especially with conflicting doc opinions. Where do you live? Honestly, I test positive to only the DGP and the newest research on its specificity is a mixed bag. My recent scope did not show "active" celiac disease but only a slight increase in IELs. I am waiting for my post biopsy appointment with the Celiac specialist next month. But I've been through a couple of GI'S locally and honestly I feel it was definitely worth going to a specialist. Especially when you have some positive blood work but a normal biopsy the doctors really go back and Forth on diagnosis and never really know for certain. Unfortunately given the above I just said I probably still do not know for certain. Sigh. But I trust the specialist to be at the top of his game on the research and at least I can feel confident and comfortable in what his opinion may be next month.

That's a great list with such great info! Do you eat at Shucks?

I just got a call from the Kaiser GI department. The doctor who performed the endoscopy was supposed to call me with the results and instead the receptionist did. She said "Dr. X says your biopsy was normal and you do not have celiac disease." Word for word, that's it! So not only did I not get to talk to her the day of my procedure, but not at all! They are printing copy of the biopsy pathology report for me and I'll get it tomorrow. I want to see if it says how many samples they took. At this point, I still feel like crap, still have symptoms and I'm going to try a gluten-free diet to see how I improve, get blood tests again eventually.