Possible Immunodeficiency

[Emmy208]

Hey there, I’ve posted on this forum twice before. If you haven’t read any of my posts, I’ve had severe chronic fatigue, GI issues, unexplained vitamin deficiencies, steatorrhea, fibromyalgia-like chronic muscle pain, and a rash that all improved on a GFD. I tested negative for celiac on all blood tests (TTG-IgA, EMA IgA, DGP-IgA/IgG). I am starting to suspect that I have some sort of immunodeficiency, probably IgA deficiency, because I get sick with colds/viruses (not allergies, I was negative on allergy tests) every month and they usually take 2 weeks to go away. In my first three weeks of school this year, I had a bad stomach virus (fever was 102.5 degrees), then after the fever went down and GI upset improved, I seem to have gotten another virus (symptoms were severe fatigue, stuffy nose, and chest pain), and after that virus started to resolve it seems like I’ve come down with a third virus (today I woke up with a scratchy throat, fatigue despite sleeping for 9 hours, and body aches and had diarrhea as well). This problem is not recent either, I have always been the one person at school who is almost always sick to the point that my friends made jokes about it. I also do have a genetic predisposition to IgA deficiency: thru a celiac gene test I was found to have half DQ2 as well as DQ5. I’m thinking that if I do have IgA deficiency, that could explain why the blood tests were negative (I know I got DGP-IgG done, but I’ve read multiple studies that estimate the sensitivity of DGP-IgG is as low as 75-76% so I’m guessing that a negative result on a DGP test isn’t always reliable). Anyways, I am going to try and get tested for IgA and other immunodeficiencies. If I have IgA deficiency and/or another immunodeficiency, is it reasonable to guess I probably do have celiac? And should I get an endoscopy to confirm? The only thing I am worried about is the gluten challenge since I know I’ll get so sick since I react so strongly to even cross contamination. However, it would be nice to get a celiac diagnosis bc I would be taken more seriously (by doctors and other people in my life) and a lot of things I’ve been experiencing would make sense. Plus, I could have yearly checkups to see how my intestines are healing, if there is hidden gluten in my food, etc. I’m honestly not sure what I will do if I test positive for IgA deficiency, what do you guys think?

[Scott Adams]

Do you have access to your original blood test results? If so, feel free to share them here, along with their reference ranges, as it would be helpful.

This article might be helpful. It breaks down each type of test, and what a positive results means in terms of the probability that you might have celiac disease. One test that always needs to be done is the IgA Levels/Deficiency Test (often called "Total IGA") because some people are naturally IGA deficient, and if this is the case, then certain blood tests for celiac disease might be false-negative, and other types of tests need to be done to make an accurate diagnosis. The article includes the "Mayo Clinic Protocol," which is the best overall protocol for results to be ~98% accurate.

 

Approximately 10x more people have non-celiac gluten sensitivity than have celiac disease, but there isn’t yet a test for NCGS. If your symptoms go away on a gluten-free diet it would likely signal NCGS.

[Emmy208]

6 minutes ago, Scott Adams said:

Do you have access to your original blood test results? If so, feel free to share them here, along with their reference ranges, as it would be helpful.

This article might be helpful. It breaks down each type of test, and what a positive results means in terms of the probability that you might have celiac disease. One test that always needs to be done is the IgA Levels/Deficiency Test (often called "Total IGA") because some people are naturally IGA deficient, and if this is the case, then certain blood tests for celiac disease might be false-negative, and other types of tests need to be done to make an accurate diagnosis. The article includes the "Mayo Clinic Protocol," which is the best overall protocol for results to be ~98% accurate.

 

Approximately 10x more people have non-celiac gluten sensitivity than have celiac disease, but there isn’t yet a test for NCGS. If your symptoms go away on a gluten-free diet it would likely signal NCGS.

Thank you so much for your help! I do have the original blood test results. I am pretty sure that on every blood test my levels were extremely low (close to zero, never more than 1). They did not do a total serum IgA yet thought celiac should just be ruled out since the blood test was negative. After my negative blood test for a while I thought I just had NCGS and some other complication like SIBO or Giardia that was causing the steatorrhea/malabsorption. However, I started to think the celiac blood test was a false negative when my stool turned back to brown (it had been yellow for months with no explained cause) after a month on a strict GFD, and the yellow stool reappeared after accidental exposure to gluten/cross contamination. I don’t think NCGS would cause yellow stool since yellow stool usually has to do with malabsorption, but I could be wrong. That’s why I’m pushing for my doctor to test me for selective IgA deficiency and CVID since both could cause a false negative on the blood test. 

[Scott Adams]

The total IgA test should always be included in a celiac disease blood panel, otherwise there may be false negative results for the tests that look at anti gliadin IgA or tTG-IgA levels. The article covers this in more detail, but yes, this should have been done. Unfortunately to be retested you would need to go through a gluten challenge--but not for the total IgA test...I believe you don't need to do a challenge for that test.

Quote

"...in order to properly diagnose celiac disease based on serology and duodenal histology, doctors need patients to be on gluten-containing diets, even if they are causing symptoms, and this is called a "gluten challenge."

• Eat gluten prior to celiac disease blood tests: The amount and length of time can vary, but is somewhere between 2 slices of wheat bread daily for 6-8 weeks and 1/2 slice of wheat bread or 1 wheat cracker for 12 weeks 12 weeks;
• Eat gluten prior to the endoscopic biopsy procedure: 2 slices of wheat bread daily for at least 2 weeks;

and this recent study recommends 4-6 slices of wheat bread per day: