Ongoing diagnosis of 6 year old- villous atrophy without intraepithelial lymphocytes

[Sarah910]

Hi there,

we have an ongoing saga with diagnosis for my 6 year old. Long story short- he’s been suffering with symptoms for a year now- abdominal pain, loose stools/ fatty stools, headaches and significant joint pain. He has had 3 positive Ttg IgA’s over a 6 month period (mildly positive ranging from 6.6-9 and everything over 5 is positive) and positive genetic markers (I can’t remember the codes of those genes but he has all the genetic markers). His biopsy has come back with villous atrophy, crypt hyperplasia but is ABSENT of intraepithelial lymphocytes. The consultant has told us, based on the absence of IEL’s he cannot have a diagnosis at this time. 
Due to persistent symptoms, positive bloods and signs of villous blunting, he is going to request an ELISA blood test?? And will get back to me on that. In the meantime he has suggested we trial gluten free and see how that goes. 

Has anyone experienced this with biopsy results or any information about it? He has been tested for all of the other things that could cause his symptoms and villous blunting without IEL’s and he’s negative for all those (crohn’s, helicopactor pylori, SIBO etc). In my gut I believe he has coeliac but I want to hear if anyone can shed some light on these results? Am I right to persist down this road? 
 

help. 
 

thanks 

[RMJ]

ELISA is the type of technology used to measure celiac antibodies and many other things, so I don’t know what test your doctor could be requesting.  
A trial of a gluten free diet sounds like a good idea!

[knitty kitty]

I'm leaning towards your son just hasn't developed IEL infiltration yet.  

The damage gets worse as uncontrolled Celiac continues. 

Maybe you will find this article helpful...

"Progression of pediatric celiac disease from potential celiac disease to celiac disease: a retrospective cohort study"

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8006356/

[Scott Adams]

Villous atrophy has very few causes, and given his symptoms celiac disease seems very likely. Normally one should get a celiac disease blood panel before an endoscopy, so I'm not sure how your doctor got that backwards, but a blood test would be important before he goes gluten-free (you need to be eating gluten daily for 6-8 weeks before a blood test). Make sure they do a full panel, including DPG, TtG, total Immunoglobulin A (IgA), etc.:

 

[Sarah910]

2 minutes ago, Scott Adams said:

Villous atrophy has very few causes, and given his symptoms celiac disease seems very likely. Normally one should get a celiac disease blood panel before an endoscopy, so I'm not sure how your doctor got that backwards, but a blood test would be important before he goes gluten-free (you need to be eating gluten daily for 6-8 weeks before a blood test). Make sure they do a full panel, including DPG, TtG, total Immunoglobulin A (IgA), etc.:

 

He has had 3 blood tests- one at the beginning of this journey, one a few months later and one at recent endoscopy. They all came back positive (IgA), ranging 6.6-9 (0-5 being considered negative). The blood test he wants to run is from previous samples and it’s for a specific protein that is very accurate in diagnosis apparently?
I asked him what else could cause atrophy and he said usually it’s either coeliac, crohn’s, SIBO or hpylori. He’s been tested for crohn’s, SIBO and hpylori and negative for them all. 
there seems to be no research or answers on Google when the results show villous atrophy without IEL, all the literature is IEL without villous atrophy. 

[Scott Adams]

Feel free to share his blood test results along with the reference ranges for a positive result. Also, in children the primary test for celiac disease would be the DPG test, as kids' immune systems can cause false negative results on tTG and other tests.

[knitty kitty]

I found this interesting article that discusses how one specific kind of IEL in Celiac disease disappears completely. 

"Intraepithelial lymphocytes subsets in different forms of celiac disease"

https://autoimmunhighlights.biomedcentral.com/articles/10.1007/s13317-016-0085-y

"On the other hand, CD3− IELs are present in healthy duodenal mucosa and disappear in active celiac disease. Therefore, quantification of both γδ and CD3– IELs confers specificity to the finding of increased IELs observed in celiac disease patients."

Edited November 17, 2022 by knitty kitty
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