Help Interpreting Celiac HLA Genotyping Results

[meg-c]

Sorry to post another question, but I'm having difficulty interpreting my results and would appreciate feedback.

Hi! I have been having a lot of symptoms that point towards Celiac disease (can include them if that's important). My antibodies (tTG and IgA) were both normal. Apparently they can be falsely negative, so my doctor ran the HLA genotyping. Also worth mentioning that I have family history of T1DM (dad) and Graves' disease (mom), along with other familial autoimmune diseases, so I know I'm at an increased risk of developing Celiac disease.

I got a call from the nurse at the doctor's office today. My results were:

• HLA - DQA1*05: POSITIVE
• HLA - DQB1*02: NEGATIVE
• HLA - DQ8: NEGATIVE

From my understanding, this is not uncommon, but doesn't totally rule celiac disease in or out. My doctor scheduled for me to have an endoscopy/colonoscopy in the new year. Some of my research (wikipedia... whoops) says that HLA - DQA1*05 is the most common positive gene in celiac.

Any further information would be greatly appreciated, thank you!

[cyclinglady]

  On 12/21/2017 at 5:20 PM, meg-c said:

Sorry to post another question, but I'm having difficulty interpreting my results and would appreciate feedback.

Hi! I have been having a lot of symptoms that point towards Celiac disease (can include them if that's important). My antibodies (tTG and IgA) were both normal. Apparently they can be falsely negative, so my doctor ran the HLA genotyping. Also worth mentioning that I have family history of T1DM (dad) and Graves' disease (mom), along with other familial autoimmune diseases, so I know I'm at an increased risk of developing Celiac disease.

I got a call from the nurse at the doctor's office today. My results were:

• HLA - DQA1*05: POSITIVE
• HLA - DQB1*02: NEGATIVE
• HLA - DQ8: NEGATIVE

From my understanding, this is not uncommon, but doesn't totally rule celiac disease in or out. My doctor scheduled for me to have an endoscopy/colonoscopy in the new year. Some of my research (wikipedia... whoops) says that HLA - DQA1*05 is the most common positive gene in celiac.

Any further information would be greatly appreciated, thank you!

Expand Quote  

Hi!  

To firmly rule out celiac disease (before doing the endoscopy), consider getting the rest of the celiac panel which includes the DGP and EMA.  Why?  Had my GI ordered just the TTG, my diagnosis would have been missed.  I only test positive on the DGP IgA (even in follow-up testing).  

Having celiac genes just means you are one of about 35% of the population who might develop celiac disease (only a few actually do).  This test primarily helps to rule out celiac disease for the most part and not diagnose it.  

Symptoms?  There are over 200 attributed to celiac disease and most overlap with other illnesses.  It is one reason testing is necessary for a firm diagnosis.  

Your endoscopy and colonoscopy can be very helpful if you are indeed seronegative.  Not saying you have Crohn’s, but I could have sworn that my niece had celiac disease.  A pill camera revealed Crohn’s beyond the reach of both scopes.  So, keep advocating for your health.  

[meg-c]

  On 12/22/2017 at 3:21 AM, cyclinglady said:

Hi!  

To firmly rule out celiac disease (before doing the endoscopy), consider getting the rest of the celiac panel which includes the DGP and EMA.  Why?  Had my GI ordered just the TTG, my diagnosis would have been missed.  I only test positive on the DGP IgA (even in follow-up testing).  

Having celiac genes just means you are one of about 35% of the population who might develop celiac disease (only a few actually do).  This test primarily helps to rule out celiac disease for the most part and not diagnose it.  

Symptoms?  There are over 200 attributed to celiac disease and most overlap with other illnesses.  It is one reason testing is necessary for a firm diagnosis.  

Your endoscopy and colonoscopy can be very helpful if you are indeed seronegative.  Not saying you have Crohn’s, but I could have sworn that my niece had celiac disease.  A pill camera revealed Crohn’s beyond the reach of both scopes.  So, keep advocating for your health.  

Expand Quote  

Sorry for the delay in my reply, life got a bit crazy with the holidays. 

It has been mentioned to me on this forum that I should get the full panel. I will definitely talk to my doctor, but we are still going full ahead with the endoscopy/colonoscopy next week regardless. Getting this partially positive genotyping has almost been a bit of a relief -- crazy to say but I'm hoping that means a possible diagnosis? At least it was negative.. I'm getting so beat up with test after test coming back normal (crazy, I should be thankful.. right?). 

You can see more of my history if interested in previous posts...

Thanks again and happy holidays!