My 19-year-old daughter has had stomach problems on and off for several years, which became chronic over the summer. She had loose stools, stomach pain, bloating and excessive burping after eating. Her sister has had type 1 diabetes for nine years. Both girls have patches of vitiligo. Since her sister has type 1, we are very familiar with celiac and we had her tested when the symptoms persisted. Her blood work was negative so we did a biopsy which was also negative. She decided to try a gluten free diet anyway because she noticed that the burping was not as bad if she ate a gluten free meal. She has been on the diet for about two months and had significant improvement.

Now away at college and dealing with the challenge of eating a gluten free diet, she still has some symptoms and she suspects that she also needs to cut out dairy. When the tests came back negative, she was diagnosed with IBS but we feel like that is the diagnosis you get when they don’t know what is wrong with you. Is it possible that she has celiac even though her tests were negative? I need to add that as the stomach problems persisted she became excessively thirsty (normal blood sugar during this) lethargic, dizzy and her fingertips were numb at times. She just generally felt terrible most of the time. Since going gluten free, these symptoms gradually decreased and she feels much better. We also had her tested for food allergies and the test came back negative.

The diagnosis of celiac disease (CD) can be challenging and there are many diseases which can have similar symptoms. Since CD is an autoimmune disease, it is very important, when making the diagnosis, to be sure the patient is eating gluten. A gluten free or low gluten diet may effect the results of the test. For the tests to be accurate, the patient needs to be eating a gluten rich diet for at least several weeks before undergoing testing. The reason for this is that the blood tests are measuring the body’s antibody response to the ingestion of gluten and in the absence of gluten in the diet, both the antibody tests may be normal. This is due to the absence of gluten but not the absence of CD. The antibody tests that are most commonly done are listed below. Any of the testing that relies of the measurement of an IgA antibody requires the presence of normal IgA levels in the body (some people are deficient in IgA). For the tests dependent on IgA to be reliable, a total IgA level should be tested to ensure it is within the normal range and, if it is not, these IgA dependent antibodies cannot be used:

IgA endomysial antibody (IgA EMA)
IgA tissue transglutaminase antibody (IgA tTG)
IgA antigliadin antibody (IgA AGA)

Serum IgA endomysial and tissue transglutaminase antibody testing have the highest diagnostic accuracy. By contrast, antigliadin antibody tests are no longer used routinely because of their lower sensitivity and specificity. However, a second generation AGA test (Deamidated Gliadin Peptide (DGP)) has an improved diagnostic accuracy (sensitivity 94 percent, specificity 99 percent). The IgA and IgG antigliadin antibody tests have lower diagnostic accuracy with frequent false positive results and are therefore no longer routinely recommended for initial diagnostic evaluation or screening.(Reference: Up To Date: Diagnosis of celiac disease; Ciar�n P Kelly, MD; Section Editor J Thomas LaMont, MD; Deputy Editor Carla H Ginsburg, MD, MPH, AGAF ;Last literature review version 18.2: May 2010. )

It is also the consumption of gluten that causes the characteristic changes in the small intestine that the biopsy is testing for. The epithelium of the gastrointestinal tract can heal over time so the absence of gluten in the diet prior to the biopsy may have allowed the small intestine to heal and the biopsy to appear normal. The biopsy itself can be challenging and it is not clear how many biopsies should be done during the endoscopy to study and test for the changes characteristic of celiac disease.

Lastly, the diagnosis to some extent is also resting on a response to a gluten free diet. The response may not be fast. It can take several months to years for some people and is dependent upon a gluten free diet which can be challenging to follow.

In summary, the diagnosis of CD is challenging that there are some things, like a deficiency of IgA or testing while on a gluten free diet that can complicate the diagnosis.

What should you do?

The diagnosis of the CD or the absence of CD needs to be made by your daughter’s health care team. I presented some more information on the tests as a way of helping you to identify if you think there were things that may have complicated her testing.

I am concerned that your daughter has symptoms for which it seems you do not feel she has complete relief and you feel you have not received a satisfactory diagnosis. I am not certain what is causing these symptoms nor can I confirm or deny that she has celiac disease.

I would suggest that you follow up both with her primary care physician and her gastroenterologist and if you do not feel the person/ group you have seen is answering your questions, that you seek to find a gastroenterologist in your area who comes recommended. Her health care team should be informed of ALL of the symptoms she has had and is having and they should also be notified of which symptoms you/she feel may be improving and what you think may be making them better.

The challenge in this case is that your daughter seems to be getting relief from most of her symptoms on a gluten free diet but gluten free diets can be challenging to follow and foods that contain gluten have many vitamins and minerals that may be more challenging to get on a gluten free diet. So, the decision to go gluten free should be one that you make in conjunction with your healthcare team. She may also be having symptoms that are caused by other conditions for which she should be evaluated.

JBRN