Contradicting Biopsy Results, With Tissue Typing And With Blood Tests

[webbydu]

My 12 yr old daughter recently had blood test done ... Ttg 146, endomysial (IgA) antibody was postive. She recently had an endoscopy which (i will quote the Dr's letter) 'examination was normal and duodenal biopsies showed intraepitheilial lymphocytosis consistent with a diagnosis of celiac disease without other features of celiac disease'. But, he was unwilling to call it Celiac for sure without a tissue typing looking for DQ2 and DQ8 and these have come back negative.

Does she has celiac or not? What do you think?

He is going to ask his colleagues.

She does not present with diarhea or bowel problems, - but has polyarthralgia, stiffness in hands and feet, lots of itchy rashes. significant stomach pain. And has recently lost about 4-5 kgs in the last 6-7 months that she hasn't been well.

What do we ask for now? Is this significant?

Please advise.

Liz (in New Zealand).

[mushroom]

You will find elsewhere on this forum that these are not the only genes associated with celiac. In Europe, especially, they recognise others. The gene experts on here will advise you further, but IMHO she is celiac, regardless of what the doctor says.

[Lisa]

Liz,

Welcome!

Your daughter is symptomatic, had positive blood testing and endoscopy consistent with Celiac Disease. What more would your doctor want! Her itchy rash may be Dermatitis Herpetiformis which is also consistent with Celiac.

A positive dietary response is also diagnostic. I would suggest the diet and consider your daughter diagnosed (in my opinion)

This is the best source for information. Take a walk around

[ravenwoodglass]

I guess your doctor wants her to continue until those villi are totally destroyed. All because she doesn't have what he considers a celiac gene. Most places only look for DQ2 or DQ8 and if those are not there the response is that everything else was wrong. There are actually another 7 genes recognized in various parts of the world as being related to celiac. Just because she does not carry DQ2 or DQ8 does not mean that it nullifies all the other positive tests. You need to get her gluten free and I would also suggest doing a celiac panel on all other first degree relatives.

[tarnalberry]

Those two genes cover the vast majority of - BUT NOT ALL - cases of celiac. So, you can't guarantee a rule out with a gene test either.