"Borderline" results?

[Emilyayla]

Hello!

My son (age 5) has been going through a diagnosis. At his well check, his pediatrician was concerned about his growth and that it had slowed, so she ordered a wrist x-ray (normal) and celiac panel. The numbers were slightly elevated. There was a lot of information I'm struggling to understand so let me know if this is the right information to share. Of the three blood tests she ordered, they came back:

IgA, normal.

Ttg, abnormal. 29.5, standard range 0 - 14.9.

Deamidated gliadin, normal.

She said the ttg was concerning but not very high. We went forward with the endoscopy which was also not very clear.

"A. Duodenum, biopsy:

-Duodenal mucosa with focal mild villous blunting and patchy mildly increased intraepithelial lymphocytes. See comment.

 

B. Stomach, biopsy:

-Gastric mucosa without diagnostic abnormality.

-H. pylori organisms are not identified with H&E stain.

 

C. Distal esophagus, biopsy:

-Squamous mucosa without diagnostic abnormality.

-Intraepithelial eosinophils are not identified."

 

Comment was "The findings in the duodenum are nonspecific and can be seen secondary to infection, medications or celiac disease.  Clinical correlation is recommended."

The pediatric GI doctor said that it was "the most borderline case" he's seen. The pictures showed no damage to the villi. The only other symptom that could be associated is constipation. The doctor said he could go either way on the diagnosis, perhaps he is in the process of developing it. He ended up going with a diagnosis and we decided to go strictly gluten-free since it seemed to be affecting his growth and the risks of missing more growing time were too high. But it sure is life changing for something we seem so unsure about... We are due back in 3 months to follow up. He said in 5-10 years we could try introducing gluten to see what happens.

My dad suggests getting a second opinion on the endoscopy results. I *think* I'm confident we are making the right decision on agreeing with the diagnosis and going gluten free? It's hard with such mild symptoms, we won't really know if he "feels" better or anything, waiting for him to grow is... Not quick!

His sister (age 2.5) took the genetic test after his diagnosis. Results were inconclusive, with HLA DQ2 positive and HLA DQ8 negative. The pediatrician ordered that and told us to get more interpretation on it from the GI when we see him next.

Help?? I just want to make sure we're doing the right thing for our kid.

Thanks in advance.

 

 

 

 

 

[trents]

The tTG-IGA at 29.5 is not borderline IMO. It is definitely positive and furthermore, the tTG-IGA is the centerpiece of celiac antibody testing.

"Duodenal mucosa with focal mild villous blunting and patchy mildly increased intraepithelial lymphocytes." The reason they send out the biopsy for microscopic analysis is because the damage to the villi is often not visible to the naked eye. And you did not mention that he is on any medications that could damage the villi and do you see signs of any intestinal infections?

Constipation is one of the most common symptoms in children of celiac disease. So is abnormally slow growth.

Everything points to celiac disease for your son. I certainly believe you are justified in starting him on a gluten free diet. Just make sure you don't do it until all testing is complete.

And his sister? You don't need both genes to be a candidate for developing celiac disease. And you can have both genes and never develop celiac disease and this is the case for most people with the genetic potential to develop celiac disease. The development of celiac disease requires both the genetic potential and a triggering stress event such as a viral infection. If the latter never happens the potential is never expressed.

Edited December 24, 2021 by trents

[Scott Adams]

For an MD to say "She said the ttg was concerning but not very high" or its "the most borderline case" he's seen shows a lack of understanding what the test results actually mean. The ttg results are currently the "gold standard" for celiac blood tests, and your son's results are double the cut off for celiac disease. This means the odds that he has celiac disease are ~97%, as this test is that accurate.

If you combine this positive test results and consider his symptoms, and the "findings in the duodenum are nonspecific and can be seen secondary to infection, medications or celiac disease," it seems like it could only be celiac disease. 

Obviously we're not doctors and can't make the diagnosis, but his doctor does not seem to be very knowledgeable about this disease.

[RMJ]

  On 12/24/2021 at 2:49 AM, Emilyayla said:

Hello!

My son (age 5) has been going through a diagnosis. At his well check, his pediatrician was concerned about his growth and that it had slowed, so she ordered a wrist x-ray (normal) and celiac panel. The numbers were slightly elevated. There was a lot of information I'm struggling to understand so let me know if this is the right information to share. Of the three blood tests she ordered, they came back:

IgA, normal.

Ttg, abnormal. 29.5, standard range 0 - 14.9.

Deamidated gliadin, normal.

She said the ttg was concerning but not very high. We went forward with the endoscopy which was also not very clear.

"A. Duodenum, biopsy:

-Duodenal mucosa with focal mild villous blunting and patchy mildly increased intraepithelial lymphocytes. See comment.

 

B. Stomach, biopsy:

-Gastric mucosa without diagnostic abnormality.

-H. pylori organisms are not identified with H&E stain.

 

C. Distal esophagus, biopsy:

-Squamous mucosa without diagnostic abnormality.

-Intraepithelial eosinophils are not identified."

 

Comment was "The findings in the duodenum are nonspecific and can be seen secondary to infection, medications or celiac disease.  Clinical correlation is recommended."

The pediatric GI doctor said that it was "the most borderline case" he's seen. The pictures showed no damage to the villi. The only other symptom that could be associated is constipation. The doctor said he could go either way on the diagnosis, perhaps he is in the process of developing it. He ended up going with a diagnosis and we decided to go strictly gluten-free since it seemed to be affecting his growth and the risks of missing more growing time were too high. But it sure is life changing for something we seem so unsure about... We are due back in 3 months to follow up. He said in 5-10 years we could try introducing gluten to see what happens.

My dad suggests getting a second opinion on the endoscopy results. I *think* I'm confident we are making the right decision on agreeing with the diagnosis and going gluten free? It's hard with such mild symptoms, we won't really know if he "feels" better or anything, waiting for him to grow is... Not quick!

His sister (age 2.5) took the genetic test after his diagnosis. Results were inconclusive, with HLA DQ2 positive and HLA DQ8 negative. The pediatrician ordered that and told us to get more interpretation on it from the GI when we see him next.

Help?? I just want to make sure we're doing the right thing for our kid.

Thanks in advance.

 

 

 

 

 

Expand Quote  

A pathologist may recommend clinical correlation instead of giving a definite diagnosis if they just are evaluating the biopsies and don’t know the rest of the medical history.  There IS clinical correlation.  There is a positive antibody test, and two possible symptoms (not growing as expected and constipation).

One thing you can do is a repeat antibody test at the followup to see if the TTG antibodies are going down, although 3 months might be a little soon to see that.  Six months would give a better indication. If TTG antibodies decrease on a gluten free diet, that would be another indication that gluten was indeed making his body attack itself (since celiac is an autoimmune disease).