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Was I misdiagnosed?

celiacker
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celiacker Rookie
celiacker
Posted

Hi everybody,

I had symptoms of celiac in 2008, received a negative blood test, but went ahead with an endoscopy which showed significant damage to my intestinal villi. My gastro in NYC got a second opinion from Peter Green at Columbia who said he thought it was likely celiac. So I went on a gluten-free diet and have felt much better since. But--and maybe this isn't so uncommon on this forum--I've since gotten genetic testing via 23andMe and couldn't help but start fixating on the fact that I tested negative for both genetic markers.

While I felt pretty awful in the final year before I stopped eating gluten, I never experienced malnourishment or abdominal pain, only an overwhelmingly tired feeling (like I had to go to bed for two hours), irregular BMs, and extreme mood swings. I believe my antibody levels were around 200 at some point in 2008, and since then have never gone above 17. I had been diagnosed with Hashimoto's thyroiditis (underactive thyroid) six years prior to the celiac diagnosis, and was on medication most of the time (sometimes the thyroid levels would normalize and I would go off for a year or thereabouts, dependent on blood test results). Since going gluten-free, I was able to spend about 10 years off synthroid until I got pregnant, during which time I went back on synthroid for the entire pregnancy.

What's nagging me now is - could this just have been SIBO or NCGS all along? I'm getting a referral to a gastro here in Canada and should be seeing them in the next few weeks. But would love anyone's insights in the meantime. Thanks!

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knitty kitty Grand Master
knitty kitty
Posted

Welcome back, @celiacker,

There are more than just two genetic markers for Celiac Disease.  The most common are HLA DQ 2 and HLA DQ 8.  

This article examines another genetic marker....

"Evidence that HLA-DQ9 confers risk to celiac disease by presence of DQ9-restricted gluten-specific T cells"

https://pubmed.ncbi.nlm.nih.gov/22342873/

And this one is interesting....

Genetic susceptibilty and celiac disease: what role do HLA haplotypes play?

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6502200/

The Antibody testing for Celiac Disease is very specific.  So, I doubt your doctors were wrong.  

 

celiacker Rookie
celiacker
Posted
  • Author

Thank you so much @knitty kitty! I'm keen to dig into this more. I did a little research yesterday but didn't read about HLA DQ9, so that's very interesting! I put my raw data into a site called XCode I was able to see that I do have the high risk markers on DQ 2.2 and also IL 21. I suppose it was wishful thinking :) Appreciate your reply!

Scott Adams Grand Master
Scott Adams
Posted

After many years here it is very rare to see someone who may be given an incorrect diagnosis of celiac disease, especially if they had positive blood tests of biopsy results, however it is much more common that a diagnosis is missed because many doctors are still not fully up on the testing protocols, and often don't even mention to their patients that they need to keep eating gluten daily until all testing has been completed.

celiacker Rookie
celiacker
Posted
  • Author
15 hours ago, Scott Adams said:

After many years here it is very rare to see someone who may be given an incorrect diagnosis of celiac disease, especially if they had positive blood tests of biopsy results, however it is much more common that a diagnosis is missed because many doctors are still not fully up on the testing protocols, and often don't even mention to their patients that they need to keep eating gluten daily until all testing has been completed.

Thanks Scott! Yeah, it seems unlikely especially with the gene markers. I can't recall now how much gluten I was eating before that first negative test, but the antibody levels of 200 later that year certainly point to positive, leaving aside the biopsy. Thanks for your insight!

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