Assuming Possible Misdiagnosis

[Purplemummy]

Hello from the UK .

In 2007 my youngest son was diagnosed with coeliac disease this was via a yearly blood test ( both he and his older brother have type one Diabetes ) . So as coeliac disease is linked it is checked along with thyroid function etc every year . In more recent years children now diagnosed with pernicious Anaemia & Addisons disease ...... I expect additional autoimmune conditions to crop up soon .

My son did not have a biopsy was just re tested for Coeliac Disease - positive again. He grew 4 cm in 3 months once diet started .

I took myself to GP and requested Coeliac testing as well for myself .... I have Vitiligo & lichen sclerous ( both Auto immune conditions ) .

I was told results were clear .

However I recently requested copies of the Coeliac test from 2007 when I collected some other recent tests results .

This is what is written which seems very unsatisfactory & from a lay mans point of view looks like test is incomplete .

====================================

" Ser tiss transglutaminase lev" , 1 U /ml ( 0 - 15)

A negative tissue transglutiminase screening test does not exclude coeliac disease in IgA deficient patients . Serum IgA levels ( Clinical chemistry ) should be measured to detect IgA deficiency .

" Anti - gliadin IgA " Test no longer available

" Anti- gliadin IgG level " Test no longer available .

======================================

So it looks like only one test was carried out , in which case I am really angry ....... This Gp surgery have made numerous errors over the years & I barely go to see them anyway & reduce prescriptions all the time .... they seem to think Diabetes goes away ......

==============================================

Please could you tell me exactly which tests should have been carried out ?

===============================================

I am unsure what to do at this point because I have been on a gluten free diet since my son was diagnosed to give moral support to him .

Some gluten will have slipped into my diet here & there as I have been slightly less vigilant for myself over the last year . But only in terms of restaurant food trace amounts ( soya sauce etc) or toasting gluten free bread in normal toaster . ( I am however super strict for my son though ) . I would never eat bread , cakes , pasta etc . So I am sure if I was tested now all tests would come back negative .

I am presently impressively anaemic , plus low ferritin , Vitamin D barely registing , Low B12 ( awaiting Active B12 results ) .

I am a single parent to my boys with their complex & increasing health needs ..... So my stress levels are extreme .... any vitamins go in & straight out just to keep me standing up .

[Takala]

Hi from back across the pond !

I looked at the NHS website, and that wasn't very helpful, it just said "blood test" for "antibodies."

Try here, the Coeliac.org.uk site

Open Original Shared Link

The most accurate blood tests for coeliac disease are:

Tissue transglutaminase antibody (shortened to 'tTGA')

Endomysial antibody (shortened to 'EMA')

The test used depends on the laboratory performing the test - they may measure one of the antibodies, or sometimes both.

IgA deficiency

Some people with coeliac disease do not make the usual coeliac disease antibodies. This is called IgA deficiency and so your GP will need to test you differently for the condition. If you have ongoing symptoms that suggest coeliac disease but you have had a negative blood test, then ask your GP to test you for IgA deficiency.

You're sort of in a pickle, they didn't try to test you very thoroughly, and you're almost off of gluten for a long time, which would skew the test results now, even if you did get a do- over.

[rosetapper23]

Personally, I think the time for testing or retesting has passed since you've been gluten free for so long. Your doctors should focus on how to address your nutritional deficiencies. If your ferritin levels do NOT increase with oral supplementation, you should request intravenous infusions for a while. As you know, you can buy sublingual B12 without the need for injections. As for Vitamin D, I know that here in the States we're able to purchase Country Life Vitamin D3, which also includes the correct ratio of Vitamin A (which is necessary when taking Vitamin D) as well as medium-chain triglycerides, which are necessary for absorption by people with celiac. I realize that sunlight can be scarce there, but perhaps you can buy a specialized lamp to deliver the proper sunlight to increase your Vitamin D, as well.

Your doctors sound like bumbling idiots (sorry to say that), so you may have to take on your own treatment plan.

[Celiac Mindwarp]

Hi

I am in the UK too and just got my results, one test only and not even a range, just 'negative'.

My doctor tested after a week on gluten, so not much chance of decent diagnosis.

Stinks doesn't it? Sorry you have been through this to. Reading around here I have decided to be my own best advocate.

Next battle, getting my kids tested...

Good luck

[frieze]

Hello from the UK .

In 2007 my youngest son was diagnosed with coeliac disease this was via a yearly blood test ( both he and his older brother have type one Diabetes ) . So as coeliac disease is linked it is checked along with thyroid function etc every year . In more recent years children now diagnosed with pernicious Anaemia & Addisons disease ...... I expect additional autoimmune conditions to crop up soon .

My son did not have a biopsy was just re tested for Coeliac Disease - positive again. He grew 4 cm in 3 months once diet started .

I took myself to GP and requested Coeliac testing as well for myself .... I have Vitiligo & lichen sclerous ( both Auto immune conditions ) .

I was told results were clear .

However I recently requested copies of the Coeliac test from 2007 when I collected some other recent tests results .

This is what is written which seems very unsatisfactory & from a lay mans point of view looks like test is incomplete .

====================================

" Ser tiss transglutaminase lev" , 1 U /ml ( 0 - 15)

A negative tissue transglutiminase screening test does not exclude coeliac disease in IgA deficient patients . Serum IgA levels ( Clinical chemistry ) should be measured to detect IgA deficiency .

" Anti - gliadin IgA " Test no longer available

" Anti- gliadin IgG level " Test no longer available .

======================================

So it looks like only one test was carried out , in which case I am really angry ....... This Gp surgery have made numerous errors over the years & I barely go to see them anyway & reduce prescriptions all the time .... they seem to think Diabetes goes away ......

==============================================

Please could you tell me exactly which tests should have been carried out ?

===============================================

I am unsure what to do at this point because I have been on a gluten free diet since my son was diagnosed to give moral support to him .

Some gluten will have slipped into my diet here & there as I have been slightly less vigilant for myself over the last year . But only in terms of restaurant food trace amounts ( soya sauce etc) or toasting gluten free bread in normal toaster . ( I am however super strict for my son though ) . I would never eat bread , cakes , pasta etc . So I am sure if I was tested now all tests would come back negative .

I am presently impressively anaemic , plus low ferritin , Vitamin D barely registing , Low B12 ( awaiting Active B12 results ) .

I am a single parent to my boys with their complex & increasing health needs ..... So my stress levels are extreme .... any vitamins go in & straight out just to keep me standing up .

True, no celiac testing will be accurate, but you could try to get a total IgA run.

[GottaSki]

It is very difficult to remain unsure, but it seems to me that your best action right now would be to remove any remaining gluten - be as strict with your body as you are with your son - to monitor for improvement. Keep supplementing the nutrients you are deficient in - it can take a very long time to improve - especially if you have trace amounts of gluten frequently enough.

If you choose to get more testing done, make sure they run the full celiac panel:

Total Serum IgA

Tissue Transglutaminase IgA and IgG

Gliadin IgA and IgG

Endomysial Antibody IgA

Deamidated Gliadin Peptide IgA and IgG

Even if you are not IgA deficient, the IgG tests are important. I am not IgA deficient yet my IgG numbers were much higher than my IgA.

The Deamidated Gliadin Peptide tests are especially important in follow up blood tests as they can indicate gluten remains in the diet - even when tTGs are negative.

Good Luck!

[Purplemummy]

Dear Everyone ,

Thank you for your helpful comments.

I how need some advice re my Son L ( see below ) younger son already has coeliac disease plus Type 1 Diabetes Pernicious anaemia , low - iron , vitamin D , iron , ferritin , folic acid .

So Son L - I wonder if he has sub clinical coeliac disease . He eats full gluten containing diet ...... & would go completely crazy if he is diagnosed , so it is important for the tests to be as correct as possible .

First Son - Child L ( male 16yrs ) Type 1 Diabetes , Addisons Disease , Pernicious anaemia , low - iron , vitamin D , iron , ferritin , folic acid .

Latest result October 2012

Tissue Transglutaminase 0.7 ( range 0 -6.99 )

Interpretation Negative .

Please could you explain what the above result means ...... does the result have to go over 6.99 to be coeliac ? I don't quite understand how it works .

I also found this snippet of information on University of Chicago Celiac Disease Center

Which I wondered whether applied to me & my boys ?

"Does this apply to you?

It is important to note that some people with Type 1 Diabetes,

Hashimoto’s thyroiditis and autoimmune liver conditions can have

a falsely positive tissue transglutaminase test. For this reason, it is

important that tTG test results in people with these conditions be

checked with the EMA test. The physician may nevertheless want to

obtain an intestinal biopsy if clinically indicated, even if EMA are

negative.

One More Thing…

People with IgA deficiency require a different version of the antibody

tests listed above. The tTG and EMA tests have IgG versions and

these tests will then be accurate for someone with IgA deficiency.

+++++++++++++++

IgA deficiency is diagnosed when someone has a total serum IgA test and

the results are very close to zero.

+++++++++++++++++++++++++++++

This is not a test for celiac disease,

but a means to make a more accurate diagnosis."

So would that mean my son ? & possibly me on my test from ( 2007 )

I have have been doing soo much medical research this last 6 months re Addisons Disease & Pernicious Anaemia & Vitamin D blah blah blah I have slightly lost the plot on some avenues .... Coeliac being one of them

Note for people based in the UK Deamidated Gliadin Peptide IgA and IgG is being considered by Great Ormond Street Childrens Hospital But is not currently available .

Regards

[GottaSki]

Your son's tTG is indeed negative, but does not mean he does not have Celiac Disease. With symptoms and a diagnosed sibling it remains a strong possibility that he does have celiac disease.

Yes, you both need to have the additional Total Serum IgA blood test to determine if you are deficient. If deficient none of the IgA based antibody tests will be accurate. IgG based tests become essential.

I'm not clear what tests you can get where you are, but the entire list I included in the previous post is the goal for each of you.

The UoC quote with regard to diabetes is speaking to false positive, not false negative tests. Your son's may be false negative.

[Purplemummy]

Thank you .

I have requested copies of all tests & results re coeliac for Son L . They do yearly tests as part of Diabetes profile but I certainly don't think they include all the ones you mentioned .

We are back in hospital on Tuesday for 36 hours re Addisons disease So I can beg & stamp my foot for any not done .Well basically ask for complete list that you mentioned .

What are your thoughts on HLA DQ2 / DQ8 genotype ? I have found that I could get that done privately but it is nearly £ 200 .

Although I am pretty anxious about a positive result ...

Regards

[GottaSki]

Not sure if your son getting gene testing is the best idea - not all people with Celiac Disease have either DQ2 or DQ8 - should he test negative to those he may use that as evidence that he does not have Celiac. I am not saying he does, but as you mention you will be convincing him of the need to remove gluten if he tests positive. On the flip side if it is positive it will add weight to the diagnosis, but it alone does not indicate Celiac Disease - only that he may develop it.

I'd push for all the essential tests of the full celiac panel, updated nutrient testing if needed and ask for gene testing at the same time should you choose to have it done. His symptoms certainly indicate it is possible. It is recommended that the full celiac panel be run for any first degree relative of someone diagnosed with Celiac Disease every 3-5 years (more frequently should symptoms arise)...since your younger son has been dx'd it should be sufficient reason for you, his father along with any siblings to be tested.