Test Results...help!

[imfinallywright]

My 17 year old son has presented with stomach issues for more than 10 years.  He constantly has loose stools and it is almost certain he will be in the bathroom mid meal or soon after every time.  He also has complained of stomach pain for many years.  He has had migraines for several years as well.  He would frequently get upper resp infections along with sinus infections and strep.  In the last year he also tested positive for mono. He has been medicated for adhd and anxiety for the last couple of years too.  He has a very hard time getting over anything and recently it is getting worse along with constant fatigue.  I have been continuing to put his symptoms together and further my research and reading and it seems that all of these things connect and point to celiac.  I did finally request a celiac panel from gp and I will list results.  I asked for full panel but I don't think that it was and I am hoping that somebody can let me know if I should continue and if so what my next course of action should be. 

 

celiac disease comprehensive casc

Immunoglobulin A (IgA), S  257    60-337

 

DQ alpha 1          01:02,05:01

Reference Value

Not Applicable

DQ beta 1             02:01,06:02

Reference Value

Not Applicable

Serologic Equivalent:

2,6

 

Celiac gene pairs present? Yes

Method: Molecular typing of HLA antigens

 

Permissive genes present, although serology is negative, celiac disease unlikely, However, approximately 10% of patients with celiac are seronegative.

 

GP says with those readings it may be difficult to get insurance to pay for endo and biopsy, up to me if I want to proceed.  She says might be easier to adhere to the gluten-free diet first and see where that leads.

Is there any additional tests I should request to be run? Being that there are gene pairs present, should myself and my husband and/or other sibs be tested? 

 

Thanks for any input!

[kareng]

If you don't have the total IGA run to see if he even makes the IGA stuff, it's not very conclusive. Show the doc info from other doctors:

Open Original Shared Link

Open Original Shared Link

[imfinallywright]

I was under the impression that result was the 257. Am I incorrect in that? Thanks! I've been reading and lurking and everyone here is so kind, helpful, and knowledgable!

[cyclinglady]

The 257 was for testing to see if he had an IGA deficiency that would invalidate the celiac tests. He is okay on on that one so the celiac tests should work.

The gene test was given, but 30% of the population has those genes and just a few go on to develop celiac disease. The GP should order a complete celiac blood panel per Karen's above link. If positive, then insurance should approve an endoscopy.

[kareng]

Sorry, I'm not clear. It looks like they did not run any tests for celiac antibodies. That looks like the test to see if he is capable of making the IGA antibodies that a celiac blood test will look for. You can print off a page from .the Univ of Chicago to show the doctor about testing.

[nvsmom]

Yes, celiac disease tests were not run, just the genetic tests and the IgA (control test).  The tTG, DGP, and EMA tests still need to be done, and or the biopsy.

 

Best wishes and welcome to the board.  

[imfinallywright]

Ttg 1.2 ref value 4

[cyclinglady]

Looks like his Ttg was negative, but so was mine and I had severe intestinal damage. I tested positive on only one of the DGP tests. Again, the full panel should be ordered to rule out celiac disease.

[imfinallywright]

Thanks. Will share w gp and have further testing or ped gi referral.

[imfinallywright]

With genes present should the rest of us be tested? Thanks again.

[imfinallywright]

With genes present should the rest of us be tested? Thanks again.

[ravenwoodglass]

With genes present should the rest of us be tested? Thanks again.

Yes. 

[imfinallywright]

Ok...so we saw ped gi on Monday. She says to me that our dr did all the tests they would run. She says they wouldn't have even run the genetic tests so our dr did more than they would. She ran blood for anemia and liver and kidney function and that's it. I asked about all the other tests and she said they aren't very reliable and they never run them. Said he sounds like he has ibs but also wants to see bloodwork and rule out crohns. :/ I thought I was on the right path but I feel deflated. She told him that right now he does not have celiac. I spoke with our home dr and she is going to order the additional testing. I just wish they wouldn't have told him that and I feel so let down. How many other parents go in with their kids and just leave it at that?!? Well...they said so it must be true!!! Aaaggghh!

[ravenwoodglass]

The Ped GI sounds like a real winner....not!  Doctors like her make me so mad. Unfortunately they are all to common.  Good to hear that your regular doctor will at least run the panels for you folks. 

At 17 your son is old enough to see a regular GI rather than one for children. I would take him to another for adults after you get the results of his blood work.  Your GP sounds like a good one so if you need a referral hopefully you will be able to get one for a second opinion. 

Good luck and hope you get some answers soon.

[cyclinglady]

What? Your PED GI needs to attend a current celiac conference.

i never had the genetic test. My doc just ran the complete panel right from the start and luckily one of the tests was positive and it was not the TTG! If you do not have the gene (exceptions do apply but are rare), then a celiac disease diagnosis is out.

While we are talking about gene testing, let's review this. Some 30% of folks carry this gene. Do they all have celiac disease? No! Just a few.

For INITIAL screening, the TTG is run and the IGA deficiency is checked. But if they are negative/normal, the doc can run the rest of the celiac tests. They usually run just the initial test because it is cheaper and insurance may not pay for a complete panel right off the bat. Even the University of Chicago who offers free screening does not run the complete panel unless further issues warrants it. It is just a way to save costs.

My family members have had to insist on a complete panel because I did not test out normally. If they just had the TTG And the IGA deficient tests, their diagnosis might have been missed.

He just might not have celiac disease. But unless you at least have all the current tests taken (including a biopsy), you can not rule out celiac disease. He will need a definitive diagnosis, in order to heal whether he has celiac disease or something else!

And the general blood work? Make sure ferritin ( iron stores) were run. I always tested normal on iron intake and even my hemoglobin was okay (I had another anemia but that is another story) It was the inability to keep iron stores that my GI doc noticed.

Finally, I am not a doctor. But I am an advocate for my health and my family. I have to be. Doctors are human (my GP has 2,000 patients assigned to her) and can make mistakes. Do not give up!

[nvsmom]

 Huh.  I would go along with the ped to rule out crohn's but get your GP to run the full celiac disease panel in the meantime.  Cover all you bases so you can be more sure.

 

Hang in there.

[squirmingitch]

You ought to print this out & mail it to the Ped GI so she can learn.:

Open Original Shared Link

 

And:

Open Original Shared Link

[imfinallywright]

Everything came back in normal range. Gliadin iga was 17.7 with reference value less than 20 as negative. Does that sound like everything is okay