Neg Ema / Positive Ttg And Biopsy / Negative Hla

[maramelia]

Hey all!

I have a little boy, now 6yrs, and he has this history: 6weeks of diarhea at 9m of life (dx of rotavirus diarrhea). after that normal life, just with problems in feeding (he didnt like food at all... since 1-2 years0old, I had to insist always, always, for him to eat, every day. rarely he asked for food, or said he was hungry. sometimes complained of stomach ache, and always had a more distended belly. with the age of 5 years, began to lose speed / fall in growth curve for height and growth. With 5y7m, he broke his arm in a silly palying with friends in school, at this time I was scared. And we began to investigate. Idiopatic short stature? > GH deficiency ? inconclusive exs. Hypothyroidism appeared > then comes MY QUESTION:

6yrs > weakly positive TTG + negative EMA + positive biopsy (Marsh type I - just few diminished vili and 35 lynphocytes (normal < 30).

And the weird thing: HLA DQ2 and DQ8 were NEGATIVE!!!

IS IT POSSIBLE?

Please help me...

PS. 2 weeks after GFD --- my child and my husband are on it... Both improved on their gastrointestinal symptoms...

Today, we went to a japanese restaurant, my husband ate (by mistake) a shimeji with a shoyo with gluten...!!! People!!! His diarrhea is back!!!!

I cant believe this is not celiac disease... Just because the HLA are negative... How to explain all this?

[ravenwoodglass]

It is quite possible to have celiac and not have one of the two most commonly associated genes. If your son and husband are doing well on the diet just keep it up.

[Skylark]

Yes, it's possible to have only part of the celaic panel positive and lack the so-called celiac genes. DQ2 and DQ8 only convey risk, they do not guarantee presence or absence of celiac disease. Notice that Ravenwoodglass who answered above is double DQ9 and had very severe celiac symptoms.

I hope your son improves on the gluten free diet!

[maramelia]

skylark and ravenwoodglass,

thanks for your answers... im really worried, because all cientific information that i read and study about those HLA genes says "if HLA tests are negative, celiac disease is almost excluded..."...

and i wrote to an expertise physician / chief of a celiac center in US, and he wrote: "probable your son is not celiac".

but at the same way, i think: if HLA genes are present in 98% of celiac disease patients, there are 2% of then without it... so, i do believe, with all this improvement we are seeing in our lovely 6yo son, that my son must have this, or at least some intolerance, something i dont know how to describe...

we are going to wait some more weeks, and we are monitoring his weight and height monthly, to see if there will be some response in the extra-gastrointestinal symptoms (hypothiroidism / growth chart - percentil curves).

Thanks, my friends.

I loved this forum.

Rgs Maramelia

[ravenwoodglass]

skylark and ravenwoodglass,

thanks for your answers... im really worried, because all cientific information that i read and study about those HLA genes says "if HLA tests are negative, celiac disease is almost excluded..."...

and i wrote to an expertise physician / chief of a celiac center in US, and he wrote: "probable your son is not celiac".

but at the same way, i think: if HLA genes are present in 98% of celiac disease patients, there are 2% of then without it... so, i do believe, with all this improvement we are seeing in our lovely 6yo son, that my son must have this, or at least some intolerance, something i dont know how to describe...

we are going to wait some more weeks, and we are monitoring his weight and height monthly, to see if there will be some response in the extra-gastrointestinal symptoms (hypothiroidism / growth chart - percentil curves).

Thanks, my friends.

I loved this forum.

Rgs Maramelia

One other thing to keep in mind as far as the genes go is that not all diagnosed celiacs are gene tested. I think that the number of folks diagnosed without the commonly associated genes would be a higher percentage if they did.

I do wish more doctors knew that the gene test is not the be all and end all of diagnosis.

Your plan to keep him gluten free and monitor his progress is a good one. Since he had a positive biopsy do keep him strictly gluten free.

[Skylark]

One other thing to keep in mind as far as the genes go is that not all diagnosed celiacs are gene tested. I think that the number of folks diagnosed without the commonly associated genes would be a higher percentage if they did.

I do wish more doctors knew that the gene test is not the be all and end all of diagnosis.

No, the studies have been done. Prometheus did a very large genetic study of 10,000 people with GI trouble. 0.16% of the people who were celiac by blood test didn't have DQ2 or DQ8. This means celiacs without the usual genes are 1.6 per thousand.

[Roda]

I'm diagnosed celiac from blood work and biopsy. I've never had the genetic tests done. My youngest son is diagnosed by blood work, his response to the gluten free diet/gluten reintroduction and my diagnosis. I wouldn't let the genetic tests keep you from putting your son gluten free and hubby. Three positives is pretty darn diagnostic of celiac despite the negative genes.

[maramelia]

Roda, Sky and Raven,

Thanks for your information. This kind of contact is important to give us more confidence to lead with this disease.

I also agree with Roda, in the case of my little son, we have many features, and just one HLA test that is negative.

Its better to wait and see what is going to happen in the future. Our only fear is to loose time doing another thing that will improve his growth, just like, for example, GH, if his case is some type of GH deficiency or resistance, and not celiac disease...

But at least one thing Im sure: without gluten, both my son and my husband are doing very well.

Best regards, Mara

[ravenwoodglass]

Roda, Sky and Raven,

Thanks for your information. This kind of contact is important to give us more confidence to lead with this disease.

I also agree with Roda, in the case of my little son, we have many features, and just one HLA test that is negative.

Its better to wait and see what is going to happen in the future. Our only fear is to loose time doing another thing that will improve his growth, just like, for example, GH, if his case is some type of GH deficiency or resistance, and not celiac disease...

But at least one thing Im sure: without gluten, both my son and my husband are doing very well.

Best regards, Mara

An endocrinologist can tell you if he has a GH deficiency without him having to go back on gluten. If his growth related problems are due to celiac he should catch up.

[maramelia]

raven, the history of my son started with the failure to thrive - percentil 2,5 in gowth chart >> then a pediatric endocrinologist, and the blood tests to see GH deficiency were "unconclusive". then this endocrinologist wanted, even with unconclusive tests, to start growth hormone, but at this time the TGG AB appeared, and then the hypothiroidism, and then the GI biopsy (mild positive - MARSH I abnormalities), and then the negative HLA...

so my son has an unconclusive GH stinuli test, and this history of celiac disease a little bit "confused" (neg EMA / mild positive TGG / mild positive biopsy / negative HLA / good GI symptoms response to GFD.

What we're waiting: some response >>> to catch up the normal growth.

Mara

An endocrinologist can tell you if he has a GH deficiency without him having to go back on gluten. If his growth related problems are due to celiac he should catch up.

[mushroom]

If I read you correctly, you are only two weeks into GFD. It will take a little while before you will notice a growth spurt, but not too long at age 8, I would think. Hang in there!