Waiting on genetic test results...the "what if" scenario.

[AmericanaMama]

Because it is how my mind works, LOL, I think a lot. Probably not always a good thing. But I was wondering. Are there situations where this could be a scenario? If so, what could it possibly mean?

TTG is positive (twice ran). EMA positive. Biopsy negative. Low iron/hemaglobin. Osteoporosis. Joint pain. Neuropathy. Primary Sjogren's.

 ...and then the genetic test is negative? 

Just throwing this out there if anyone knows. I will probably know the results today or tomorrow. Prometheus Labs is the company.

Thanks!

 

[Scott Adams]

Feel free to share your two blood test results with us, including the high mark levels for celiac disease, but if you have two positive ttg tests it could definitely mean celiac disease, regardless of the biopsy results. At the very least you should consider your results to mean non-celiac gluten sensitivity (NCGS) for which there is currently no test available, although ~12% of people have it.

Biopsy results can vary greatly, and gut damage is considered the end stage of celiac disease. Most experts agree that positive blood tests can happen before gut damage in some people.

[AmericanaMama]

My results are back from Prometheus:

Celiac Risk Haploptype Detected:

HQ 2.5 (HLA DQA1*05:DQB1*0201) and other non-risk alleles.

Then it listed the Category as 4- DQ2 Heterozygous Increased risk: 10x Relative Risk: High

   Doc's office said I was at high risk for celiac and that I could just do the gluten-free diet and go from there or that it could be patchy refractory celiac and that requires a biopsy further to which I said, "nope". The assistant agreed. She has celiac disease and wouldn't do that herself, LOL!!

Any feedback is always appreciated! It's "Greek to me" for sure.

Robin

 

[Scott Adams]

I think they gave you good advice, and I’d also go with a gluten-free diet ASAP.

Be sure to let your direct relatives know, as they should also be screened for it, as ~44% of direct relatives will also have it.

[nora-n]

The EMA test is pretty specific