Genetic Test Results

[mspat3]

Hi Everyone!  I first posted a few months ago after finding out that my lifelong IBS symptoms seemed to get better after I cut out gluten.  I had visited an allergist who told me I had a wheat allergy, along with nuts and sesame.  She had run a celiac blood test, but I was already eating gluten-free so it was inconclusive.  

At the end of July, I went to see a gastroenterologist who looked at those results from the allergist and agreed they were not valid, immediately pointed out my B12 and Iron levels on my most recent blood work I'd brought him (ordered by my primary doctor) were abnormal.  I told him that the B12 was high because it was being supplemented and was likely low due to my needing the drug metformin for my blood sugar levels, and the iron was likely low due to heavy menstrual cycles during perimenopause, and even though I supplement, it stays at the low end of the normal range always.   He said, "Possibly. But I have seen patients who believe that, go through menopause, and still have low iron levels only to find out they're actually celiacs."   He suggested, based on my bloodwork and my resolution of symptoms when gluten is removed from my diet that we do genetic testing to see if I carry the markers for celiac disease.  He said this would be a good way to find out if the genes match the symptoms and bloodwork, without me needing to eat gluten again for testing. 

I got my test results back this morning.  The lab releases them once the doctor has viewed them, but I have not spoken to my doctor yet.  I am guessing his office will call me today.  However, here are the results.  There are no ranges listed, just results. 

HLA DQ2:  POSITIVE

HLA DQ8: NEGATIVE

HLA Variants Detected: HLA DQA1: 01

HLA DQA1: 05

HLA DGB1: 0201

HLA DQB1: 0501

The Lab Doctor that reviewed the results gave the interpretation of:  "The patient has one of the HLA-DQ variants associated with celiac disease."   Below that, it is written: "More than 97% of celiac patients carry either HLA-DQ2 (DQA1*05/DQB1*02) or HLA DQ8 (DQA1*03/DQB1*0302) or both. However, 39% of the general U.S. population carry these HLA-DQ variants, as a consequence, the presence of HLA-DQ2 or DQ8 or both variants is not per se diagnostic of celiac disease. Genetic counseling as needed."  

So, as I'm reading this, and please feel free to tell me if I'm wrong, it appears that I do have the markers for celiac disease, however, despite having the symptoms and the markers, I may need to have a more conclusive test (Endoscopy, maybe?) to be sure?   Or is this test, along with my lifelong symptoms that resolved when gluten was removed enough to say I have Celiac Disease?   I suppose maybe it will come down to what my doctor says when his office calls me later today, but I do value your input on what you think based on your experiences.  Thanks so much! 

 

[knitty kitty]

@mspat3,

Hi!  How did your doctor appointment go?

As I understand it, a triggering event is needed to turn on the Celiac genes.  Triggering events  such as a physical stress, like an accident or an illness or even a vaccination, an emotional stress or emotional trauma.  

Do be careful with Metformin.  Metformin can cause Thiamine deficiency and folate deficiency as well as B12 deficiency.

I control my type two diabetes with diet (Autoimmune Protocol Diet).  I experienced thiamine deficiency while on Metformin.  

Hope you let us know what the doctor said! 

[mspat3]

9 hours ago, knitty kitty said:

@mspat3,

Hi!  How did your doctor appointment go?

As I understand it, a triggering event is needed to turn on the Celiac genes.  Triggering events  such as a physical stress, like an accident or an illness or even a vaccination, an emotional stress or emotional trauma.  

Do be careful with Metformin.  Metformin can cause Thiamine deficiency and folate deficiency as well as B12 deficiency.

I control my type two diabetes with diet (Autoimmune Protocol Diet).  I experienced thiamine deficiency while on Metformin.  

Hope you let us know what the doctor said! 

Hi Knitty Kitty!  I still have not heard from my doctor's office.  I called and left a message with his nurse, but I have not received a call back to discuss the results.  He does tend to overschedule his appointments, so perhaps that's part of it, but I had hoped I would have heard something by now.  

I have heard that traumatic events can trigger digestive issues.  I have had chronic diarrhea, cramping, and all those symptoms since my mid-to-late 20's.  I'm 50 now.  At that time, the doctor I was seeing just dismissed my symptoms as IBS, and I held onto that belief and still am not sure of that diagnosis.  My current GI doctor is accepting that diagnosis for now while we do further testing and wait for my colonoscopy in October. However, during that time in my life, I lost my son (born premature), planned and held his funeral, got pregnant again the following year with a high-risk pregnancy that required surgery in my 3rd month and then bedrest until our second son was born.  He had health issues when born (later resolved, thankfully!), and my husband had to travel for work so could not be at home while I navigated all of this.  At the same time, my Mother-in-Law, who had mental illness, was causing incredible stress in my life, leaving offensive items on my deceased son's grave for some odd reason, so I had to drive each day 20 miles to the cemetery to look for items being left and remove them.  So, when I saw IBS was caused by stress, I accepted that. I was definitely under some stress.

Over the years, though, we moved far away from my in-laws and created distance there, my husband found a job that didn't require travel, and we have lived a nice calm life with the normal ups and downs that most people face.  Still, the IBS symptoms persisted.  

Two years ago, my Mom was diagnosed with Stage 4 Pancreatic Cancer.  She has reached a point where there is now No Evidence of Disease (NED) and is receiving immunotherapy treatments which do not have the side effects of chemo, thankfully, and she is pretty much back to her normal happy self.  She drives herself to her appointments, enjoys all her hobbies and interests, and can eat all the foods she loves.   However, it was a rough road for her to get there.   Seeing her struggle, hearing her tell me that she was so miserable that "If an angel appeared to me and said it was my time to go, I would say 'ok' and go", having her local hospital discharge her from the emergency room (uncontrolled nosebleed due to chemo) because they needed the bed for another patient during a covid wave, with her pants full of feces from a chemo-induced diarrhea accident, etc. And it was around that time that my diarrhea and other symptoms got worse, and this time, and it became light colored, and I developed fatigue and brain fog and just a general feeling of being unwell.  Which led to me doing google research initially, finding Celiac Disease as a possible culprit, and discontinuing gluten just to see what would happen.   That day, I went to the bathroom 2 times instead of 10.  The next day, not at all.  It still took a bit until I felt better and the brain fog cleared, but the change in my bathroom visits was incredible to me. 

So, I don't know if it could have been triggered by the events in my 20s, and maybe this wasn't IBS, or maybe it was actually IBS back then, and celiac may have been triggered recently with my Mom's illness.   Those are really the only two big trauma-type events I've experienced, and both had an effect on my digestion.  

When I look at the lists of celiac symptoms, I see so many items on there that ring true.  Things like short stature--I'm by far the smallest person in my family with no explanation as to why.  Troubles with tooth enamel--I get cleanings ever 3 months, and the dentist always finds problems, and this has been going on since I was a child.  Maybe coincidence, and maybe I just didn't win the good enamel lottery in life, but I really do wonder if I have Celiac disease, beyond just carrying the genetic markers. 

Thank you for the information on Thiamine.  I have noticed that since I have been doing the FODMAP diet, per my GI doctor's recommendation, that my fasting blood sugar has dropped a lot. Not eating any processed foods has really helped also.  

My first colonoscopy is scheduled for October 3rd, so I'm not sure if the doctor would want to add in an endoscopy or something to that, since I'll be fasting for the procedure already.  I will hopefully find something out today if his office returns my call.  I know I would have to return to eating Gluten for that, though, so I'm really hoping I won't have to do that.  

 

 

[mspat3]

Posting an update. Here is what has happened since I last updated: 

1. Spoke to my doctor's nurse on August 29, 2022, who told me my genetic results were "negative" because the DQ8 was negative.  I pointed out that the DQ2 was positive, and the lab doctor said I had one of the two genes for celiac disease and further testing would be needed to confirm celiac.  She said she knew nothing about that and would talk to the doctor when he came back from vacation.  He returned from his vacation today, 9/6/22. 

2. Today, I called the gastro-office's procedure desk to ask if a Covid-19 test would be required for my colonoscopy on October 3rd, being performed at a local hospital.  I left a message, and the scheduling office returned my call.  She said that no test would be needed as long as case numbers continued to fall in our area, and then she said, "You will also be having an endoscopy the same day."   Ok...wow!  That's great!  I asked if I needed to come sign consent forms for that like I did for my colonoscopy, and she said No, and then ended the call.  

3. After thinking about the fact that I'm gluten-free and I know you have to be eating gluten for a period of time prior to an endoscopy for celiac disease, I called her back and left another message asking about this, not wanting to get an inconclusive result again, like I did when my allergist ordered a celiac blood test after I'd been eating gluten free for awhile.   She called me back, and in a sing-songy/condescending tone, scolded me for reading health information on the internet and told me....shockingly...that the doctor would tell me AFTER the procedure what I needed to do.  Yes, you read that correctly.  She said the doctor would tell me whether I needed to eat gluten prior to the test...after he had already done the test and was discussing his findings with me.  Yes, I'm aware that makes little sense.  

4.  So, now I am stuck.  My options are to contact the doctor's nurse at the risk of being a pest of a patient and ask her for any preparation instructions, or just eat gluten for a couple of weeks prior to the test on my own just to have the hope of an accurate diagnosis, one way or the other (celiac or gluten sensitivity).  I realize both outcomes have the same treatment (eating gluten-free), but celiac comes with some risk factors that I want to be aware of, that would not be as big a concern if this is just a gluten sensitivity.  

5. Thanks for all the support and listening.  I really appreciate it.  

[mspat3]

Another update.  I called and left a message with my doctor's nurse, letting her know what was told to me by the scheduling lady at the office, and just asking for confirmation from the doctor.   

I received a call from the scheduling lady a few moments ago.  I guess the nurse passed my message back to her to handle.   The scheduling lady seemed very angry that I called "again" and didn't accept her original answer.  I told her I wanted peace of mind to ensure I get an accurate test result.  She said, "In all the years I have worked for this doctor, he has never...EVER...asked a patient to eat gluten before an endoscopy."   I asked, "Even for celiac disease?" and she firmly responded, "Yes."    So, it appears I'm going into the test without eating gluten, which is great in the sense that I will not have to make myself sick, but I am concerned still that my results will be inaccurate.  

[JenniK]

Remember, you can choose to eat gluten (despite the rude scheduling lady’s non-helpfulness) on your own. In your case, i think i would. It seems a waste to go through that procedure anyway but not get a definitive answer.

also, if the dr is as much of a clueless jerk as the receptionist,  you could change Gastroenterologists before you endure the expense and difficulty of the procedure. 

i am in a similar scenario with presumed celiac, been gluten-free for years, now also gastric ulcers. Seeing a new gastro tomorrow for first time. If he recommends endoscopy (which my GP thinks he should), i will ask him the same question about going back on gluten. Maybe he will give me a better answer than you got. 

[Scott Adams]

On 9/6/2022 at 12:27 PM, mspat3 said:

Posting an update. Here is what has happened since I last updated: 

1. Spoke to my doctor's nurse on August 29, 2022, who told me my genetic results were "negative" because the DQ8 was negative.  I pointed out that the DQ2 was positive, and the lab doctor said I had one of the two genes for celiac disease and further testing would be needed to confirm celiac.  She said she knew nothing about that and would talk to the doctor when he came back from vacation.  He returned from his vacation today, 9/6/22. 

2. Today, I called the gastro-office's procedure desk to ask if a Covid-19 test would be required for my colonoscopy on October 3rd, being performed at a local hospital.  I left a message, and the scheduling office returned my call.  She said that no test would be needed as long as case numbers continued to fall in our area, and then she said, "You will also be having an endoscopy the same day."   Ok...wow!  That's great!  I asked if I needed to come sign consent forms for that like I did for my colonoscopy, and she said No, and then ended the call.  

3. After thinking about the fact that I'm gluten-free and I know you have to be eating gluten for a period of time prior to an endoscopy for celiac disease, I called her back and left another message asking about this, not wanting to get an inconclusive result again, like I did when my allergist ordered a celiac blood test after I'd been eating gluten free for awhile.   She called me back, and in a sing-songy/condescending tone, scolded me for reading health information on the internet and told me....shockingly...that the doctor would tell me AFTER the procedure what I needed to do.  Yes, you read that correctly.  She said the doctor would tell me whether I needed to eat gluten prior to the test...after he had already done the test and was discussing his findings with me.  Yes, I'm aware that makes little sense.  

4.  So, now I am stuck.  My options are to contact the doctor's nurse at the risk of being a pest of a patient and ask her for any preparation instructions, or just eat gluten for a couple of weeks prior to the test on my own just to have the hope of an accurate diagnosis, one way or the other (celiac or gluten sensitivity).  I realize both outcomes have the same treatment (eating gluten-free), but celiac comes with some risk factors that I want to be aware of, that would not be as big a concern if this is just a gluten sensitivity.  

5. Thanks for all the support and listening.  I really appreciate it.  

They seem to be giving you bad info, and this is too bad. For example, if you are positive for any of the genetic markers for celiac disease, you can get celiac disease. It really just depends on which markers are positive which determines your overall risk of developing it.

You need to eat gluten daily for 6-8 weeks before a blood test, preferably at least 2 slices worth of wheat bread, or 2 weeks before an ensoscopy

On some level I guess you need to decide how badly you need a diagnosis, as perhaps it might be easier to just go gluten-free and see if your symptoms resolve.

[mspat3]

2 hours ago, Scott Adams said:

They seem to be giving you bad info, and this is too bad. For example, if you are positive for any of the genetic markers for celiac disease, you can get celiac disease. It really just depends on which markers are positive which determines your overall risk of developing it.

You need to eat gluten daily for 6-8 weeks before a blood test, preferably at least 2 slices worth of wheat bread, or 2 weeks before an ensoscopy

On some level I guess you need to decide how badly you need a diagnosis, as perhaps it might be easier to just go gluten-free and see if your symptoms resolve.

Thank you, Scott.  I talked with my husband tonight about all of this, and I have decided I will eat gluten again between now and my test on October 3, 2022.   I tried to get a clear answer from my doctor by calling his nurse today, but she passed my message right back to the lady in scheduling who returned my call and was angry that I had not accepted her original response of no gluten being required. She said the doctor has never told someone to eat gluten before an endoscopy in all her years working for him, but like my husband said, if nothing was wrong with me, I could eat gluten, and other foods that make me feel sick (eggs, dairy, etc).  So, there does appear to be something wrong, and an accurate diagnosis is my goal.   I know the end result is to go back to eating gluten-free whether this is celiac, gluten sensitivity, or something else entirely, but I want to know whether I have Celiac disease so I can let my son know that he might be at higher risk if he develops symptoms, and to be able to watch for any complications as time goes by.  Thank you for all the support you have offered in this quest to get some sort of a clear picture of what is going on with my body right now. 

[mspat3]

3 hours ago, JenniK said:

Remember, you can choose to eat gluten (despite the rude scheduling lady’s non-helpfulness) on your own. In your case, i think i would. It seems a waste to go through that procedure anyway but not get a definitive answer.

also, if the dr is as much of a clueless jerk as the receptionist,  you could change Gastroenterologists before you endure the expense and difficulty of the procedure. 

i am in a similar scenario with presumed celiac, been gluten-free for years, now also gastric ulcers. Seeing a new gastro tomorrow for first time. If he recommends endoscopy (which my GP thinks he should), i will ask him the same question about going back on gluten. Maybe he will give me a better answer than you got. 

Hi Jenni, Thank you for your response.  You're absolutely correct. I can choose to eat gluten despite what I was told, and after talking to my husband tonight, I have decided to do that.  My test is in 3 weeks (October 3rd), and I will start eating gluten tomorrow.   This gastroenterologist is new to me, and I have only met with him one time.   I'm going to have the tests done, but I am considering looking for a new practice after the tests are done.  It's not that I think he is a bad doctor, but his office staff is so rude and unhelpful, and I have never been to a medical office where the staff gets angry for asking what I feel is a valid question (gluten/no gluten?) or won't have a nurse return a call.   I had today's call on speakerphone, and my husband said I was being too nice and should have been more forceful when she was being so rude and condescending.  That's just not how I am, but maybe I need to learn to be.  

I wish you luck with your appointment with your new doctor tomorrow. I would be interested in hearing what your doctor recommends if he decides to order an endoscopy, if you don't mind sharing. 

[JenniK]

I had my appt this morning. My doctor was (friendly and patient at least) , but also not encouraging me to go back on gluten for the endoscopy because he said he can’t be sure how long it would take for the damage to become clear after having been gluten-free for so long. He said the endoscopy is not the diagnostic absolute for celiac ‘that is used to be.’ That was disappointing. He also doesn’t want to flare up what was probably dermatitis herpetiformis. (Then again, he told me that if it does flare, to get it tested because it is one of the best diagnosis of celiac…) 
It is very discouraging to just want an answer. My endoscopy is not for a few months, i am having some other tests first. I will decide whether to go on G for a month anyway. 

[ravenwoodglass]

In an earlier post you said they will be doing an endo at the same time as the colonoscopy. Is that not the case now? 2 weeks back on gluten is what I understand to be the time for an endo. That may have changed though. You have 3 weeks till your procedure so IMHO you should go back on gluten and insist they do the endo at the same time as the other procedure. You might not need more tests if they do that and why undergo 2 procedures when they can both easily be done at the same time.

[mspat3]

Just now, ravenwoodglass said:

In an earlier post you said they will be doing an endo at the same time as the colonoscopy. Is that not the case now? 2 weeks back on gluten is what I understand to be the time for an endo. That may have changed though. You have 3 weeks till your procedure so IMHO you should go back on gluten and insist they do the endo at the same time as the other procedure. You might not need more tests if they do that and why undergo 2 procedures when they can both easily be done at the same time.

Hi Ravenwoodglass,  

Yes, originally when I met my gastroenterologist for the first time on July 26th, he only scheduled the Celiac Genetic blood test (performed on August 16) and the colonoscopy (scheduled for October 3rd).  When the genetic test results came back, my doctor's nurse said they were negative, but the lab doctor wrote on the test that I had one of the genetic markers for Celiac and should be tested further for a confirmed diagnosis.   She said she would discuss that with my doctor when he returned from his vacation.   

I found out they had added the endoscopy to my already-scheduled colonoscopy when I randomly called on Sept. 6th to ask if a Covid-19 PCR test would be required for the colonoscopy since it is being done in a hospital.  During that call, the scheduling lady at their medical office told me the endoscopy had been added.  

I definitely do want an accurate result, one way or the other (Celiac Disease or Non-Celiac Gluten Sensitivity), so last night, I decided to start eating gluten again.  Right now, the only diagnosis I have is IBS-D, but the gastroenterologist said during our first meeting that he suspected that there was more to my symptoms, either Celiac or ulcerative colitis or possibly both.  

The strange part of all of this is that I had an allergist order a celiac blood test in May, even though I told her I was eating gluten-free at the time.  It came up negative, naturally.  I brought those test results to my initial appointment with the gastroenterologist.  He looked at them and said, "Hmm...but this test says you don't have Celiac disease", and I said, "I was not eating gluten at the time", and he said, "Oh, ok. Then that's inconclusive and void then."   Yet, according to his scheduling office, he does not recommend eating gluten before an endoscopy?   That does not make much sense for him to know gluten is needed for the blood test, but not the endoscopy.  I feel certain there is some sort of miscommunication there at the office between the doctor, his nurse, and the scheduler, but I definitely am back to eating gluten as of today.  

Thank you for responding and for your support. 

[mspat3]

1 hour ago, JenniK said:

I had my appt this morning. My doctor was (friendly and patient at least) , but also not encouraging me to go back on gluten for the endoscopy because he said he can’t be sure how long it would take for the damage to become clear after having been gluten-free for so long. He said the endoscopy is not the diagnostic absolute for celiac ‘that is used to be.’ That was disappointing. He also doesn’t want to flare up what was probably dermatitis herpetiformis. (Then again, he told me that if it does flare, to get it tested because it is one of the best diagnosis of celiac…) 
It is very discouraging to just want an answer. My endoscopy is not for a few months, i am having some other tests first. I will decide whether to go on G for a month anyway. 

Hi Jenni, 

It sounds like you and I had the same decision to make.  I'm not sure if celiac damage will show by the time of my endoscopy in three weeks, but if I have celiac, I'm also not sure if years of damage could have been repaired in 5 months. I can say that today I had gluten for lunch, and within an hour, I was already seeing symptoms return.  So, if this is not Celiac Disease, then it's something else that the doctor will hopefully find in my tests.   I wish you luck with your decision on whether to eat gluten, and I am very happy to hear that your doctor was friendly and patient.  That always helps.  

[mspat3]

Hi Everyone! I wanted to provide an update to this post.  I had an endoscopy (and colonoscopy) on Monday, after eating gluten for three weeks prior, and my results came back today saying that I had a "Benign duodenal mucosa with preserved villous architecture and no increase in intraepithelial Lymphocytes".   So, it looks like we have ruled out celiac.  I do have a confirmed wheat allergy, and I'm suspecting a gluten sensitivity since I do so much better without gluten in my life.  

I have also tested negative for H.Pylori, microscopic colitis, inflamatory bowel disease, crohns disease, dysplasia, and malignancy.  

So, it looks like my original diagnosis from decades ago of IBS (Irritable Bowel Disease) is what I'll be treating through the FODMAP diet. I will be omitting foods that I know are triggers for me (wheat/gluten, tomato sauces, eggs, spicy foods, dairy, etc).  Also, the doctor wants to talk to me at my re-check in November about bile acid absorbers because I have no gallbladder, and too much bile in my system could also be causing some of my symptoms.  

Thank you for all of the support you've all provided to me while seeking out a diagnosis and explanation for my symptoms.  Looking forward to taking steps towards healing now, with no more gluten challenges.  This last one was really rough.  

[JenniK]

That’s great news about no celiac. Hopefully that means you can be less stringent with some limitations. I would just love to be able to avoid gluten but not worry about cross contamination. Maybe you can get to that point? 
 

How did your body react to eating gluten for three weeks? how much did you eat? i have to make the same decision for my procedures in a couple months. Right not dealing with presumed gastric ulcers which are very uncomfortable, but very different from my normal gi issues.

[mspat3]

Hi Jenni, I went above and beyond the recommended 2-slices of wheat bread during my gluten challenge.  I wanted to be 100% sure that when the endoscopy was done, that I would not doubt my results.  So, I ate breakfast sandwiches, doughnuts, and pastries for my breakfasts, lunch sandwiches, pastas for dinner, or breaded chicken with macaroni and cheese on the side and snacked on cookies and cakes made with wheat flour.  I left nothing to chance. 

While the biopsy showed my villi were unaffected by the food I'd eaten, my body felt the changes in just days.  I had joint and muscle pains that by the end of the 3 weeks were bad enough that I had to hold onto something to stand and mostly shuffled instead of walking normally, chest congestion, brain fog to a point where, near the end of the challenge, my son would ask if I was feeling okay because I seemed so confused, yellow diarrhea 10x a day, bellyaches, headaches, vision became blurry (even when wearing my glasses), and I gained 18 pounds of fluid/edema (I also have lymphedema so I put on fluid quick).  I may not have gone through all of this if I'd stuck to the 2-slices of wheat bread recommendation, but like I said, I wanted to be absolutely sure the results were accurate. 

I weighed myself before going to the hospital when I was prepped for the procedures, and by Thursday, even after resuming gluten-free and low-FODMAP eating, I had already lost 8.8 pounds from my pre-procedure/cleaned out weight. The weight is falling off as the inflammation leaves my body.  The inflammation was still visible to my eye doctor two days after the procedure.  During my routine exam, he said out of the blue, "You have a lot of inflammation in your eyelids", and he did some extra tests to check on my blurry vision I'd been experiencing.  I asked if the inflammation he saw in my eyes could be caused by the inflammation I was still carrying as a result of the challenge, and he said it could be.  It was enough inflammation that he asked me to come back this coming Wednesday to have him recheck my eyes.  I still have a bit of lingering joint pains, but I can walk normally again, and my breathing is much better as the congestion clears.  Most of the brain fog is gone.  Overall, I feel so positive now that I know what is causing my digestive issues.  I don't regret doing (overdoing) the challenge at all because I really needed those biopsies to be accurate, and I felt like this was my last chance to find out.  But I am happy that I don't have to eat gluten ever again, and now that I have what I feel are accurate answers, I feel like I can take the steps needed to achieve better digestive and overall health.  

Wishing you luck with your tests!  I hope you get all the answers that you need.