Hla Dq2//8 Negative Ttga Strong Positive Where To Now?

[Pickled]

My son is 4 he has Down syndrome

He is tired a lot and he has sores/redness on the bony parts elbows and knees that don't heal (just flare and subside). His Ferritin is lowing at 24 and his Magnesium is also low. He bowels are great just once a day formed brown poo.

First visit to Dr we did TTGA and it was >300 so she ordered the gene test HLA Dq2/8 but it has come back negative his test for thyroid etc are all fine ....now she is thinking his sores and redness on his knees and elbows maybe DH despite neg gene test, is this even possible I thought HLA tests were definitive?

[nvsmom]

No, he gene tests aren't definitive. We have at least one board member who is DQ2 and 8 negative who also tested positive for celiac disease. Most of us do have the dq 2 and 8 genes, but it's not necessary to develop celiac disease.

Celac is genetic though, so the rest of the family might want to get tested as well.

A low tTG IgA can indicate, I about 5% of cases, thyroiditis, diabetes, crohn's, colitis, or liver disease, but with such a high positive test, it is surely celiac disease.

If they do test for dh, make sure they biopsy beside the rash rather than on it.

Welcome to the board.

[GottaSki]

Nicole is right...the genes associated with celiac are not a perfect indicator.  We have a few members that had no genes (not even the others besides Dq2 and 8 that are associated with celiac and/or gluten sensitivity) that were diagnosed by blood and/or endoscopic biopsy.

 

I think the DH biopsy is a good idea....but also would not discount the value of endoscopic biopsy in this case.  He has low Ferritin and Magnisium -- have other nutrients been tested?  The damage associated with Celiac Disease prevents the proper absorption of nutrients.

 

Not sure...but if tTG-IgA was the only celiac antibody test, I'd also suggest completing all celiac antibody tests:

 

EMA-IgA

tTG-IgG

DGP-IgA

DGP-IgG

 

normally a Total Serum IgA is also important to assure the patient has enough IgA to make the IgA based antibody tests valid -- you might add this in but with a tTG of over 300 sounds like he is IgA sufficient.

 

Welcome to the forum!

 

Let us know if you have any more questions.

[powerofpositivethinking]

welcome, Pickled!

 

I'm so glad your doctor did not automatically dismiss celiac despite the negative gene test.

 

ravenwoodglass is a firmly diagnosed double DQ9 celiac.  I am also negative for both DQ2 and DQ8, but I do have one copy of DQ9. 

 

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[Pickled]

Thanks everyone for your responses!! DQ9!!!!!!!! I am so glad I have found a group that knows what they are talking about!!

My sons Dr has now suggested 2 months gluten free , then retesting tTGA to see if it comes down.

He has already been off gluten (with a couple of slip ups) for three weeks and at 11 days (off gluten) we noticed something had 'clicked''

He was talking so much more and has more energy - easily able to get through his morning at preschool for the first time ever.

However he also started a new supplement around this time and it maybe the effect of the supplement alone or a combination of diet and the supplement. I guess I have to remove the supplement and see if these changes remain on diet alone.....

Anyhow it's just so complicated !

I was looking for a definitive black or white answer but it looks that gluten intolerance is very much a grey area.

Thanks again

[Cara in Boston]

Welcome to the board.

 

There is a good chance your son has Celiac Disease.  There is a documented connection between Celiac and Down's so there is a chance that this has no genetic connection whatsoever.

 

We were originally told that my son did not have celiac disease because his genetic test indicated he was at low risk . . . even though he had a positive blood test.  He had no symptoms other than a behavior change.  We took him to the Celiac Clinic at Children's Hospital Boston and he was found to be positive for celiac via biopsy.  The specialist we see there doesn't even do the genetic tests because they really don't tell you anything and they can actually lead you in the wrong direction.  

 

Lots of people without the common gene still go on to develop celiac . . . lots who do have the gene don't . . . so there you go.

 

I would bet that with the Down's Syndrome and the high TTG IgA your son has celiac.