Diagnosis of no Celiac

[Smitty1953]

Our daughter (age 45) gets very sick after having gluten-vomiting within the hour and for the next couple of hours, cramps, chills and weakness (from the vomiting). She feels "sick" for the next 1-2 days.She is so sensitive that simple cross contamination of something like fries in the same fryer as chicken has the same affect as eating gluten. A couple of years ago she cut all gluten out, thinking she had celiac. Our thoughts went to this because her father was diagnosed with it many years ago. His sensitivity is not serious as hers. Today she had an endoscopy and colonoscopy  and  labs and all came back negative for celiac disease, we were surprised, relieved. Besides her dad being positive,she has an aunt (dads sister), and two cousins with it, all on dads side of the family. Do these symptoms sound like just a severe gluten allergy/sensitivity? Is there any other testing she should have done ? Any thoughts are appreciated.

[trents]

Welcome to the forum, @Smitty1953! Sounds like your daughter has been on a reduced or even gluten free diet for sometime as you say she is sensitive to CC (cross contamination). If so, her testing for celiac disease would be negative. For the celiac antibody blood tests to be valid, the person being tested must have been consuming regular amounts of gluten for weeks. This is also true if the endoscopy/biopsy of the small bowel is being performed. If you remove gluten from the diet, the constant inflammation that produces the antibodies begins to subside. No inflammation, no antibodies. No antibodies, no positive test results. For your daughter's tests to be valid she must resume consuming gluten. This is called a "gluten challenge". The current guidelines are the daily consumption of at least 10g of gluten for at least 2 weeks leading up to the day of the blood draw. 10g of gluten is roughly found in 4-6 slices of bread. I know this is not what you wanted to hear but there is presently no other way to arrive at an official diagnosis of celiac disease or even rule it out.

[knitty kitty]

Welcome to the forum, @Smitty1953,

While the positive blood tests and biopsy/endoscopy are the preferred method of diagnosis, genetic testing and improvement on a gluten-free diet are acceptable testing methods if ones health is endangered doing a gluten challenge.  

Since Celiac Disease is a genetic autoimmune disease, one must have specific genes in order to potentially develop the disease.  One does NOT have to endure a gluten challenge for Genetic Testing.  Not all genetic combinations are known for celiac disease, but looking for the most common ones can help diagnosis.  

I went gluten free before testing, but after reintroducing gluten I became so ill I couldn't complete the challenge.  Genetic testing shows I have two genes for celiac disease.  With improvement on a gluten free diet and positive genes, my doctors diagnosed Celiac Disease.  

Best wishes

[trents]

It needs to also be said that having the genetic potential for celiac disease does not equate to a diagnosis of celiac disease. 30-40% of the general population has the genetic potential for celiac disease but only about 1% of the general population ever develop active celiac disease. Not having the genes can be used as a rule out, however, and having the genes can be corroborative evidence in the face of clear symptoms when a gluten challenge is inadvisable. There is also the possibility that your daughter has NCGS (Non Celiac Gluten Sensitivity) for which there currently is no testing.

[knitty kitty]

NCGS (Non Celiac Gluten Sensitivity) can be a precursor to Celiac Disease in people with positive Celiac genes. 

[Smitty1953]

9 hours ago, trents said:

Welcome to the forum, @Smitty1953! Sounds like your daughter has been on a reduced or even gluten free diet for sometime as you say she is sensitive to CC (cross contamination). If so, her testing for celiac disease would be negative. For the celiac antibody blood tests to be valid, the person being tested must have been consuming regular amounts of gluten for weeks. This is also true if the endoscopy/biopsy of the small bowel is being performed. If you remove gluten from the diet, the constant inflammation that produces the antibodies begins to subside. No inflammation, no antibodies. No antibodies, no positive test results. For your daughter's tests to be valid she must resume consuming gluten. This is called a "gluten challenge". The current guidelines are the daily consumption of at least 10g of gluten for at least 2 weeks leading up to the day of the blood draw. 10g of gluten is roughly found in 4-6 slices of bread. I know this is not what you wanted to hear but there is presently no other way to arrive at an official diagnosis of celiac disease or even rule it out.

 

[Smitty1953]

Trent-

Thank you so much ! This makes total sense. She is scheduled for genetic testing for a different gene and I will tell her to have them add on whatever is necessary for this test. Thanks again !

9 hours ago, knitty kitty said:

Welcome to the forum, @Smitty1953,

While the positive blood tests and biopsy/endoscopy are the preferred method of diagnosis, genetic testing and improvement on a gluten-free diet are acceptable testing methods if ones health is endangered doing a gluten challenge.  

Since Celiac Disease is a genetic autoimmune disease, one must have specific genes in order to potentially develop the disease.  One does NOT have to endure a gluten challenge for Genetic Testing.  Not all genetic combinations are known for celiac disease, but looking for the most common ones can help diagnosis.  

I went gluten free before testing, but after reintroducing gluten I became so ill I couldn't complete the challenge.  Genetic testing shows I have two genes for celiac disease.  With improvement on a gluten free diet and positive genes, my doctors diagnosed Celiac Disease.  

Best wishes

Knitty Kitty- Thank you very much. She definitely could not and would not do the gluten challenge. She is scheduled for genetic testing for another gene and I will tell her to add this on as well. Thank you again !

[trents]

@Smitty1953, there are actually two main genes that have been identified with the potential to develop celiac disease, HLDQ2 and HLDQ8. They also have variants and recent research suggests there may be more genes involved. But you would want to have at least those two checked for.

[Wheatwacked]

The good news is that acccording to the tests done she is being compliant about GDF and with no other symptoms is thriving.  The bad news is that she is very sensitive to gluten.  That would likely indicate a compromised immune system from multiple vitamin deficiencies.  Has she been checked for 25(OH)D Serum Level?