Newly Confirmed Diagnosis

[Wendy226]

Hello,

I have had a long journey. Back in 2010 I had a colonoscopy for chronic diarrhea. I was diagnosed with microscopic colitis. The dr had me go gluten free while awaiting blood results, which came back negative for celiac. So he told me there was no reason to be on a  gluten free diet. About a year later my 19 year old daughter started having symptoms so she did the Enterolab stool test and I decided to do one as well since I still had the diarrhea. My dr did further bloodwork and diagnosed my daughter with celiac but again told me I do not have it and dismissed my Enterolab result as inaccurate. Fast forward to last week…new Dr and he couldn’t believe my microscopic colitis was still present. Normally that resolves itself unless there are other conditions. He did an endoscopy and said I have celiac Marsh 3C. 

Enterolab result from 2011:

HLA-DQB1 Molecular analysis, Allele 1 0201

HLA-DQB1 Molecular analysis, Allele 2 0202

Serologic equivalent: HLA-DQ 2,2 (Subtype 2,2)

Does the Enterolab report suggest Celiac? It was dismissed by my dr saying the fecal tests are not accurate. 
If I had gone gluten-free 12 years ago maybe I wouldn’t have the marsh 3C level of damage at this point. 

[knitty kitty]

Welcome to the forum, @Wendy226,

Yes, your doctor should have been aware that Celiac Disease is genetic.  After diagnosing your daughter with Celiac, all her first degree relatives (like her mom) should have been tested for Celiac as well.  

You've got a genetic combination common in Celiac Disease.  

Many of us have struggled with symptoms a long time before getting a proper diagnosis.  Thankfully, your new doctor was on his toes! 

[Scott Adams]

If my understanding of your post is correct, it seems your doctor made some mistakes--especially if you went gluten-free before any blood test was taken for celiac disease. 

Some in the medical community reject Enterolab and their stool testing, but Dr. Fine of Enterolab has been doing this a long time--and he also does blood testing for celiac disease, but Dr. Fine believes that the antibodies first appear in the gut, then the blood, and then you get damaged villi. Catching the disease at the earliest stages is his goal, and in your case it appear that his testing may have done that.

The test results you shared from 2011 appear to be genetic test results, and not the stool test results. 

The provided genetic test results indicate the presence of the HLA-DQ2 haplotype, which is associated with an increased risk of celiac disease. The HLA-DQ2 haplotype is commonly expressed as HLA-DQ2.5, and it is a key genetic factor linked to celiac disease susceptibility. In this case, the results suggest the presence of HLA-DQ2.2, a specific subtype of HLA-DQ2.

It's important to note that while the HLA-DQ2 haplotype increases the risk of developing celiac disease, not everyone with these genes will develop the condition. Conversely, some individuals with celiac disease may not have the HLA-DQ2 or HLA-DQ8 genes. The absence of these genes does not exclude the possibility of celiac disease, as there are non-HLA genetic and environmental factors involved in its development.

This article has some detailed information on how to be 100% gluten-free, so it may be helpful (be sure to also read the comments section.):

 

 

[Wendy226]

Thanks for your reply. I did the stool testing back in 2011 as well. Here are those results. Not sure why my gastro would have denied the accuracy. Very frustrating. 
 

A) Gluten Sensitivity Stool and Gene Panel Complete *Best test/best value
Fecal Anti-gliadin IgA    65 Units   (Normal Range is less than 10 Units)

Fecal Anti-tissue Transglutaminase IgA    19 Units   (Normal Range is less than 10 Units)

Quantitative Microscopic Fecal Fat Score    Less than 300 Units   (Normal Range is less than 300 Units)

Fecal Anti-casein (cow’s milk) IgA    17 Units   (Normal Range is less than 10 Units)

HLA-DQB1 Molecular analysis, Allele 1    0201   

HLA-DQB1 Molecular analysis, Allele 2    0202   

Serologic equivalent: HLA-DQ   2,2  (Subtype 2,2)

3 hours ago, Scott Adams said:

If my understanding of your post is correct, it seems your doctor made some mistakes--especially if you went gluten-free before any blood test was taken for celiac disease. 

Some in the medical community reject Enterolab and their stool testing, but Dr. Fine of Enterolab has been doing this a long time--and he also does blood testing for celiac disease, but Dr. Fine believes that the antibodies first appear in the gut, then the blood, and then you get damaged villi. Catching the disease at the earliest stages is his goal, and in your case it appear that his testing may have done that.

The test results you shared from 2011 appear to be genetic test results, and not the stool test results. 

The provided genetic test results indicate the presence of the HLA-DQ2 haplotype, which is associated with an increased risk of celiac disease. The HLA-DQ2 haplotype is commonly expressed as HLA-DQ2.5, and it is a key genetic factor linked to celiac disease susceptibility. In this case, the results suggest the presence of HLA-DQ2.2, a specific subtype of HLA-DQ2.

It's important to note that while the HLA-DQ2 haplotype increases the risk of developing celiac disease, not everyone with these genes will develop the condition. Conversely, some individuals with celiac disease may not have the HLA-DQ2 or HLA-DQ8 genes. The absence of these genes does not exclude the possibility of celiac disease, as there are non-HLA genetic and environmental factors involved in its development.

This article has some detailed information on how to be 100% gluten-free, so it may be helpful (be sure to also read the comments section.):

 

 

 

[Scott Adams]

I went through years of various testing before finally getting diagnosed, so I know how frustrating it can be. In your case you were screened for gluten sensitivity and the stool tests indicated that you did have issues with gluten. At the very least your doctor should have ordered a blood test at that time to verify those results.

Looking ahead, at least you have a diagnosis now and can hopefully begin your recovery, which can take months to years. Being 100% gluten-free will make your recovery happen faster.