Dr said not celiac but knowledge seemed questionable

[lookingforanswersone]

Hi,

I have been exploring potential celiac disease. For a year and a half my symptoms have been:

Chronic fatigue 

Anxiety 

Depression 

Hair loss (loss of volume, reversing hair line, loss of eyebrows and eyelashes)

Dry eyes which water a lot

Rumbling stomach, especially at night 

Gassy at night 

Liquid stools or constipation with some normal poos in between

Bloating 

Left arm going dead 

Pins and needles 

Concentration difficulties 

Speech difficulties - word finding problems 

General physical weakness and breathlessness 

Occasional joint pain 

Muscle pain and muscles tiring easily 

Low mood 

Reversing gums

My gp has ruled out lots of conditions such as lupus and hyperthyroidism. I suggested celiac disease. Had the ATg blood test which came back negative. But aware can have false negatives so pushed for further tests. Gp did an immunoglobulin panel. All fell in normal range except immunoglobulin M which was above range ((2.35 - normal range 0.5 - 1.9) Gp said didnt think it was celiac. 

I ordered a DNA test privately to rule it out and this showed I have HLA haplotypes DQ8 and DQ7 which I was told puts me at high risk of celiac disease

After this I went to see a private consultant gastroenterologist. He diagnosed me with Irritable Bowel Syndrome and said he would not test me further for celiac because:

- I don't have severe and serious GI symptoms like losing weight, diorreah or vommiting.
- ATg blood tests were negative and immunoglobulin M wasnt worryingly high, just only slightly high
- the genetic test is nonsence because 90% of the population have those genes

- that I havent tried giving up gluten and seeing what that does, so I should do that first.

So, he basically doesnt suspect celiac for these reasons. The only problem is... I don't know how much I trust his judgement because from my own reading I know you can have celiac disease without serious, or even any, GI symptoms. Not sure why he would use would this as a reason to rule it out then.

He told me to give up gluten and see what this does, except I know this goes against general advice for diagnosis; that you should keep gluten in your diet.

Also, I'm not sure what he meant by the DNA being present in 90% of the population. A quick scan of the literature showed me DQ8 was found in 31.2%, 30% and 40% of the general european population. And is present in those who hace Celiac disease, although DQ2 has a higher presence in those with celiac disease. So, I'm not sure why he would give me misinformation regarding this?

As such, I'm far from satisfied that celiac disease is ruled out for me. I'm not too sure what to do next though. Some options ive been mulling over:

- get my blood tests redone privately for potential celiac and iorn deficiency and see what that brings up.
- write him a letter sharing my thoughts outlined above and ask him to further outline his rationale
- go and see a different private consultant.

I'm so lost though. Would love to know your thoughts on what the doctor said and what you think I should do next?

(References for DNA:

Open Original Shared Link

Open Original Shared Link

Open Original Shared Link

7. Bonamico M, Ferri M, Mariani P Nenna R, Thanasi E, Luparia RP, et al. Serologic and genetic markers of celiac disease: a sequential study in the screening of first degree relatives. J Pediatr Gastroenterol Nutr. 2006;42:150–4. 10.1097/01.mpg.0000189337.08139.83[PubMed]

8. Sollid LM. Molecular Basis of celiac disease. Ann Rev Immunol. 2000;18:53–81. 10.1146/annurev.immunol.18.1.53[PubMed]

6. Farre CÂ, Humber P, Vilar P, Varea V, Aldeguer X, Carnicer J, et al. Serological MarKers and HLA-D2 Haplotype among first-degree relatives of celiac patients. Dig Dis Sci. 1999;11:2344–9. 10.1023/A:1026685527228 [PubMed]
)

[cyclinglady]

8 hours ago, lookingforanswersone said:

Hi,

I have been exploring potential celiac disease. For a year and a half my symptoms have been:

Chronic fatigue 

Anxiety 

Depression 

Hair loss (loss of volume, reversing hair line, loss of eyebrows and eyelashes)

Dry eyes which water a lot

Rumbling stomach, especially at night 

Gassy at night 

Liquid stools or constipation with some normal poos in between

Bloating 

Left arm going dead 

Pins and needles 

Concentration difficulties 

Speech difficulties - word finding problems 

General physical weakness and breathlessness 

Occasional joint pain 

Muscle pain and muscles tiring easily 

Low mood 

Reversing gums

My gp has ruled out lots of conditions such as lupus and hyperthyroidism. I suggested celiac disease. Had the ATg blood test which came back negative. But aware can have false negatives so pushed for further tests. Gp did an immunoglobulin panel. All fell in normal range except immunoglobulin M which was above range ((2.35 - normal range 0.5 - 1.9) Gp said didnt think it was celiac. 

I ordered a DNA test privately to rule it out and this showed I have HLA haplotypes DQ8 and DQ7 which I was told puts me at high risk of celiac disease

After this I went to see a private consultant gastroenterologist. He diagnosed me with Irritable Bowel Syndrome and said he would not test me further for celiac because:

- I don't have severe and serious GI symptoms like losing weight, diorreah or vommiting.
- ATg blood tests were negative and immunoglobulin M wasnt worryingly high, just only slightly high
- the genetic test is nonsence because 90% of the population have those genes

- that I havent tried giving up gluten and seeing what that does, so I should do that first.

So, he basically doesnt suspect celiac for these reasons. The only problem is... I don't know how much I trust his judgement because from my own reading I know you can have celiac disease without serious, or even any, GI symptoms. Not sure why he would use would this as a reason to rule it out then.

He told me to give up gluten and see what this does, except I know this goes against general advice for diagnosis; that you should keep gluten in your diet.

Also, I'm not sure what he meant by the DNA being present in 90% of the population. A quick scan of the literature showed me DQ8 was found in 31.2%, 30% and 40% of the general european population. And is present in those who hace Celiac disease, although DQ2 has a higher presence in those with celiac disease. So, I'm not sure why he would give me misinformation regarding this?

As such, I'm far from satisfied that celiac disease is ruled out for me. I'm not too sure what to do next though. Some options ive been mulling over:

- get my blood tests redone privately for potential celiac and iorn deficiency and see what that brings up.
- write him a letter sharing my thoughts outlined above and ask him to further outline his rationale
- go and see a different private consultant.

I'm so lost though. Would love to know your thoughts on what the doctor said and what you think I should do next?

(References for DNA:

Open Original Shared Link

Open Original Shared Link

Open Original Shared Link

7. Bonamico M, Ferri M, Mariani P Nenna R, Thanasi E, Luparia RP, et al. Serologic and genetic markers of celiac disease: a sequential study in the screening of first degree relatives. J Pediatr Gastroenterol Nutr. 2006;42:150–4. 10.1097/01.mpg.0000189337.08139.83[PubMed]

8. Sollid LM. Molecular Basis of celiac disease. Ann Rev Immunol. 2000;18:53–81. 10.1146/annurev.immunol.18.1.53[PubMed]

6. Farre CÂ, Humber P, Vilar P, Varea V, Aldeguer X, Carnicer J, et al. Serological MarKers and HLA-D2 Haplotype among first-degree relatives of celiac patients. Dig Dis Sci. 1999;11:2344–9. 10.1023/A:1026685527228 [PubMed]
)

I am sorry that you are unwell.  

Your specialist might very well have given you good advice. Trialing the gluten free diet can be very revealing.  

Here are over 200 symptoms related to celiac disease which can be systemic.  Unfortunately, these very symptoms can overlap with so many illnesses.  Testing for antibodies is the first step.  Since you tested negative to the TTG IgA, consider asking for the rest of the panel (or order outside of your healthcare plan (sounds like you are in the UK).  Why?  I test positive to only the DGP IgA.  I have never had a positive on the TTG IgA.  But I was severely anemic and already had a diagnosis of Hashimoto’s for 20 years which are two very strong risk factors in celiac disease.  

Open Original Shared Link

Genes?  90% May have been an exaggeration.  Maybe he was referring to his patient population. Regardless, tons of people have the genes.  What does that mean?  Nothing in terms of diagnosing celiac disease.  It is most often used to help rule out celiac disease — not diagnose it.  

You can trial the diet for six months or pay privately for the complete celiac panel.  If you do trial the diet, avoid non-processed foods and do not eat out until you feel better.  

I wish you well.

[tessa25]

Here's my spiel on celiac testing. I'm assuming you've only had one of the tests so far.

The full celiac panel includes:

TTG IGA
TTG IGG
DGP IGA
DGP IGG
EMA
IGA

You can either have a new gastroenterologist order the full celiac panel plus whatever else they typically test for, or you can order your own test at a site like walkinlab.com. At walkinlab.com it's called the celiac comprehensive test and costs $298.00 (not covered by insurance). Then if any one test comes up high you can give it to a new gastroenterologist so they can do an endoscopy. The blood draw is done at your nearest Labcorp. You get your results in less than a week at walkinlab.com .

 

[lookingforanswersone]

Hi, thank you both for your responses, they are really really helpful! 

I have only had one test so far, so my next step will definetly be full panel. Then will reassess situation and see if a trip to a new endo or trying gluten free will work, depending on outcome.

I'm in the UK, so would not be able to use walkinlab, unfortunately. I've found this one but it does not seem to be full panel?: 

Open Original Shared Link

Would anyone please be able to confirm this for me please, as I definetly want to do full panel. It will have to be private, I won't get it on the NHS here. 

I agree that perhaps he meant 90% of his patients have the genes meaning it rules it out, not in - which I do get, but I think he thought I thought it meant I was diagnosable. Which I didn't. 

One final question, can you still be negative for the whole full panel and maybe have celiac disease? In which case, trial or biopsy would be the next step?

Thank you again. I wish you both well as well.

[GFinDC]

Hi LFA1,

The Medicheck labs look ok, but I don't see total serum IgA listed.  Total serum IgA is needed to verify the patient actually is capable of making IgA antibodies.  If the person can't make IgA antibodies then the IgA anti-gliaden tests are invalid.

You should definitely not go gluten-free until all testing is completed.  If you did go gluten-free now you antibodies would start declining and the testing would not be accurate.  Your gastro is faulty in the celiac realm.

Can you search on the web for a celiac support group in your area?  If you find one they maybe able to suggest a good gastro doc for you.  There is a UK coeliac forum online.

[cyclinglady]

About 10% of celiacs are seronegative, if I recall correctly.  

You already had a set of Immunoglobulin tests and  your IgM was a bit elevated and your IgA was normal.  So, all celiac testing should work, unless you fall into the seronegative category.  

So, the lab you referenced should be fine.  Your GI May know that an endoscopy is expensive.  He may know that the wait time for one under the NHS system is long.  That could be a reason why he recommended the diet.  If you respond well, he  might just give you a celiac disease diagnosis instead of IBS.    If you do not respond to the diet, look for another illness.