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Can you tell me about these test results?

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Celiac Category 4      
(NOTE)
CATEGORY DQ HAPLOTYPE RELATIVE RISK
Category 7 DQ2.2 AND DQ2.5 Extremely High
Category 7 DQ2.5 AND DQ2.5 Extremely High
Category 6 DQ2.2 AND DQA1*05, DQB1*03:01 Very High
Category 5 DQ2.2 AND DQ8 Very High
Category 5 DQ2.5 AND DQ8 Very High
Category 4 DQ8 AND DQ8 High
Category 3 DQ2.5 AND DQA1*05, DQB1*03:01 High
Category 3 DQ2.5 AND DQA1*03, DQB1*02 High
Category 3 DQ2.5 AND OTHER LOW RISK ALLELE High
Category 3 DQ2.2 AND DQA1*05, DQB1*03:03 High
Category 2 DQ8 AND OTHER LOW RISK ALLELE Moderate
Category 1 DQ2.2 AND OTHER LOW RISK ALLELE Low
Category 0 NEGATIVE FOR DQ2.2 Negative
Category 0 NEGATIVE FOR DQ2.5 Negative
Category 0 NEGATIVE FOR DQ8 Negative

DQ2.2 = DQA1*02:01, DQB1*02:02
DQ2.5 = DQA1*05, DQB1*02:01
DQ8 = DQA1*03, DQB1*03:02

The identification of o
ne of these HLA-DQ genotypes is not, by 
itself, sufficient for the diagnosis of celiac disease, since both 
DQ2 and DQ8 are relatively common in the general population. 

 

 

 

Hi friends. I was tested last year as I had very severe bloating problems and after lots of searching and adking around on the internet, someone informed me it may be celiac.

Every doctor I have seen so far has brushed it off, I don't have it blablabla. I didn't believe them, couldn't afford to visit with a GI doc, and definitely couldn't afford the endoscopy. Also I have been thinking as this has been relatively new, and inconsistent- perhaps my intestines wouldn't have such a visible difference at this point.

I was gluten-free for weeks, then succumbed to everyone telling me "it's not Celiac!! nobody really has it!" Even my professor at my medical school told us this. So I ate badly all of December (birthday, holidays, etc!) and now I have what I'm realizing is psoriasis on my hands/fingernails. And a burning pain in my back/shoulders that I am assuming is arthritis? Also extreme muscle fatigue in my arms, I can hardly stir a pot of soup.. it's pretty ridiculous. Also not sure if this is related, but sugar makes me crash hard. As in I literally fall asleep. 

I'm back on fully gluten-free diet, but curious what your thoughts are about these results? When I called to ask the nurse she said it didn't mean anything.

Thank you for reading!

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I wish I could help you interpret those results! It's so frustrating to not be able to read the results of your test accurately! Have you tried Google-ing each of those individual results? A GI doc really would be the best place to start and get some solid answers, as well as the endoscopy, but I certainly understand that those are all things that cost a lot of money! How do you feel when you are gluten-free? That could be a very good indicator of what is going on! If you feel better while on a gluten free diet one would assume that gluten irritates you in some way. Have you talked to your primary doctor about any of this? I know you said you talked to many doctors about this and was brushed off, which is a shame! Is is possible to change your primary doctor? Sorry, I wish that I had more answers for you!

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SStar,

I'm curious as to who ordered those labs?  If they were ordering genotyping, they hopefully understood what the results would mean.  I am an Ob/gyn, so I don't have as much experience in it as a GI doc, but I've read lots on it because I have atypical celiac disease(no bowel symptoms, just brain fog, irritability and dermatitis herpetiformis).  

Are you, then in medical school?  Your post seems to insinuate that you are.  It would be a great learning exercise for you to research the genotypes involved in celiac disease.  My understanding is that genotyping is not the first-line testing.  Currently, usually docs will get IgA tissue transglutaminase antibody level to screen for the disease.  Then follow up with duodenal biopsies. I guess maybe you were on the gluten-free diet when you had your testing done?  

Lots of different variables to work with here.  I'm sure you can find an attending physician in your medical school who understands the nuances of celiac disease.  My experience is attendings usually are happy to consult with medical students without charging anything.

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I'm not a scientist or a doctor, but I did have Celiac Genetic testing.  What you posted seems to be the note explaining what your risk might be with certain haplotypes, but it doesn't appear that you posted your actual results.  For instance, my genetic tests said "Celiac Risk Haplotypes Detected..." and then explanation of risk (screenshot below).  If you are positive for any of the Celiac haplotypes that does not necessarily mean you have Celiac Disease.  About 30-40% of the population has the DQ2 and DQ8 heterodimer.  

There is a good video explaining Celiac genetics from the celiac disease Foundation here: 

A more detailed explanation of Celiac genetics (and many other things) can be found here: https://www.ncbi.nlm.nih.gov/books/NBK1727/

Hope this helps!

image.png

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On 2/3/2018 at 6:44 PM, JGF17GF said:

I'm not a scientist or a doctor, but I did have Celiac Genetic testing.  What you posted seems to be the note explaining what your risk might be with certain haplotypes, but it doesn't appear that you posted your actual results.  For instance, my genetic tests said "Celiac Risk Haplotypes Detected..." and then explanation of risk (screenshot below).  If you are positive for any of the Celiac haplotypes that does not necessarily mean you have Celiac Disease.  About 30-40% of the population has the DQ2 and DQ8 heterodimer.  

There is a good video explaining Celiac genetics from the celiac disease Foundation here: 

A more detailed explanation of Celiac genetics (and many other things) can be found here: https://www.ncbi.nlm.nih.gov/books/NBK1727/

Hope this helps!

image.png

Thank you very much for this!!

I realized I never even saw my results either- I guess that is why I was so confused! I had the list of risks and categories but my result was hard to see. It was at the very top and says I am Category 4. 

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