Thoughts? Non-endoscopic Celiac diagnosis in two year old

[Samanthaeileen1]

Hello there! New to celiac community, although I have lots of family in it.
 My two year old was just diagnosed with celiac disease based on symptoms and bloodwork. 
symptoms (swollen belly, stomach hurting, gagging all the time, regular small vomit, fatigue, irritability, bum hurting, etc)

she got tests at 18 months and her bloodwork was normal.
She just got tested again at 2 1/2  because her symptoms were getting worse and these were her results :

 

Tissue Transglutaminase Ab, IgA

58.8 Unit/mL (High)

Endomysial Antibody IgA Titer

1:5 titer (Abnormal)

 

Gliadin Antibody IgA

< 1.0 Unit/mL

Gliadin Antibody IgG

8.5 Unit/mL

Immunoglobulin A

66 mg/dL

Her regular pediatrician diagnosed her with celiac and told us to put her on the strict gluten free diet and that we wouldn’t do an endoscopy since it was so positive and she is so little (26lbs and two years old). I’m honestly happy with this decision, but my family is saying I should push and get an endoscopy for her. It just seems unnecessary and an endoscopy has its own risks that make me nervous. I’m certain she has celiac especially with it running in mine and my husbands family. We are now thinking of testing ourselves and our 5 year old as well. 
anyways what would y’all recommend though? Should we ask for an endoscopy and a GI referral? (We are moving soon in 5 months so I think that’s part of why she didn’t refer us to GI)

 

 

[RMJ]

The normal ranges can vary for the tissue transglutaminase and gliadin antibody celiac tests because the units aren’t absolute.  Could you please tell us what the normal ranges are for the laboratory used? If her tissue transglutaminase results are 10-fold above the normal range some would diagnose her on that alone. 

Endomysial antibody ranges are more standardized, and a titer of 1:5 would usually be normal.  Might that be the normal range and not her result? 

Her total immunoglobulin A is normal for her age. (This is tested because if low, then the other IgA tests might not be valid).

[Samanthaeileen1]

here are the lab ranges. 
Normal ranges for tissue transglutaminase are:

<15.0 Antibody not detected > or = 15.0 Antibody detected

normal for endomysial antibody is < 1.5. So she is barely positive but still positive. 

[RMJ]

So her tissue transglutaminase antibody is almost 4x the upper end of the normal range - likely a real result.

The other things you can do besides an endoscopy would be:

1.  Genetic testing.  Unfortunately a large proportion of the population has genes permissive for celiac disease, but only a small proportion of those with the genes have it. With family history it is likely she has the genes.

2.  Try a gluten free diet and see if the symptoms go away AND the antibody levels return to normal. (This is what I would do).

Endoscopies aren’t always accurate in patients as young as your daughter. Unfortunately, without an endoscopy, some doctor later in her life may question whether she really has celiac disease or not, and you’ll need to be a fierce mama bear to defend the diagnosis! Be sure you have a good written record of her current pediatrician’s diagnosis. Doing a gluten challenge for an endoscopy later in life could cause a very uncomfortable level of symptoms.  

Having yourself, your husband and your son tested would be a great idea.

 

[Wheatwacked]

My son was diagnosed when he was weaned in 1976 after several endoscopies.  Given your two year old's symptoms and your family history and your pediatrition advocating for the dx, I would agree.  Whether an endoscopy is positive or negative is irrelevant.  

28 minutes ago, RMJ said:

without an endoscopy, some doctor later in her life may question whether she really has celiac disease or not, and you’ll need to be a fierce mama bear to defend the diagnosis!

That may happen even with endoscopy.  Pick your doctors with that in mind.

In the end you save the potential trauma of the endoscopy for your baby.  

4 hours ago, Samanthaeileen1 said:

swollen belly, stomach hurting, gagging all the time, regular small vomit, fatigue, irritability, bum hurting, etc

Mine also had really nasty poop.  His doctor started him on Nutramigen Infant because at the time it was the only product that was hypo allergenic and had complete nutrition. The improvement was immediate.

[Samanthaeileen1]

thank you RMJ! That is very helpful advice. Good to know we aren’t crazy if we don’t do the endoscopy. We are going to try the gluten free and see how symptoms and levels improve. 
 

thank you Wheatwacked (love the username lol) that is also reassuring. Thankfully she has an amazing and experienced pediatrician. And yesss I forgot to mention the poop! She has the weirdest poop issues. 
 

How long did it take y'all to start seeing improvement in symptoms? 

[Russ H]

16 hours ago, Samanthaeileen1 said:

here are the lab ranges. 
Normal ranges for tissue transglutaminase are:

<15.0 Antibody not detected > or = 15.0 Antibody detected

normal for endomysial antibody is < 1.5. So she is barely positive but still positive. 

The anti-endomysial antibody test is an old test that is generally reported as positive or negative - a lab technician looks down a microscope to check for fluorescence of the sample. It is less sensitive but more specific for coeliac disease than IgA tTG2. Hence, it is not "barely positive" - it is positive.

People diagnosed in childhood recover much more quickly than adults. 

I would look at testing all 1st degree relatives - parents, siblings.

[Samanthaeileen1]

Okay that is really good to know. So with that being positive and the other being high it makes sense she diagnosed her even without the endoscopy. So glad we caught it early. She had so many symptoms though that to me it was clear something was wrong.  
yeah I think we had better test us and the other kids as well.