Negative Hla Test

[bridgetsmommy]

My daughter was diagnosed over a year ago with celiac disease (she was 17 mo. at DX). Her serologic tests were negative (although done by our pediatrician, so I wonder if she ordered the appropriate tests). We went to a GI after her symptoms of weight loss and diarrhea didn't subside. The GI encouraged us to have the endoscopy and the findings were suggestive of celiac disease (she had some leukocites and some villi atrophy....don't know exact numbers or percentages). Anyway, she was put on a gluten-free diet and has done wonderfully.

However in May, she started to have the diarrhea again and after 10 days of it we went back to the GI. He ran some blood work including the HLA test. It was negative! Her symptoms have since subsided, but now we're wondering if she really does have celiac disease? GI recommends a gluten challenge followed by another endoscopy. We will most likely go ahead with it but have lots of questions.

Have any of your children had similar findings? Is it possible for her to have celiac disease with a negative HLA? The GI said her 1st endoscopy was borderline, but indicative of celiac disease. Have any of you had second endoscopies? Any thoughts or advice?

Thanks!

[Skylark]

Yes, she can absolute have celiac disease with "negative" HLA tests. We've been going round and round about celiac genes in another thread today. Most celiacs are HLA-DQ2 or HLA-DQ8 but NOT ALL OF THEM! There are documented cases of biopsy-positive celiac for most HLA types.

It is notoriously hard to get positive antibody tests in young children, so your doctor probably didn't order the wrong tests. The second round should be negative if she's been gluten free. The biopsy with leukocytes and villous atrophy and her great response to a gluten-free diet is plenty of evidence of celiac disease.

Gluten challenges can be really hard on people with celiac disease, and doctors don't seem to understand that. If her diarrhea has settled down and she is doing well, I'd really look hard at the the reasons for doing a gluten challenge. Young kids need their nutrition to grow and develop and since she is a diagnosed celiac, you will most likely damage her villi and trigger a few more months of malabsorption.

[ravenwoodglass]

Have any of your children had similar findings? Is it possible for her to have celiac disease with a negative HLA? The GI said her 1st endoscopy was borderline, but indicative of celiac disease. Have any of you had second endoscopies? Any thoughts or advice?

Thanks!

I agree completely with Skylark. My family has been through this and with tragic results. I was hard to diagnose but after my diagnosis we tested both the children. Both were positive to the blood tests and one of them then underwent a biopsy that was also positive. Issues they had resolved and all went well until my DD went off to college. She decided to have the testing redone after being gluten free for a few years, after all it is hard for a college student to be gluten free when all their freinds are feasting on pizza and burgers. She had the gene testing done and the doctors told her that her original diagnosis was wrong as she didn't have DQ2 or DQ8 and she could never be celiac and never was. She was told all her symptoms on gluten were from stress. That prompted me to test my genes and it was discovered that I have a double dose of a gene that is recognized as a celiac related related gene in other countries but not in the US. Both of my kids of course have at least one copy of that gene. We also had my ex-husband tested and he was positive also but I don't know which gene he carries.

The diet was very helpful to your child, the 10 days of D could have been related to a virus or even some cross contamination somewhere.

Please keep her on the diet, the original testing was positive and to put her through a challenge would be IMHO inhumane and if not done for long enough to damage her back to the point she was at when she was originally diagnosed may result in a false negative.