Need Help Interpreting Test Results.

[mom26boys]

Hi! I am hoping that someone on the forum can help me with my genetic test results, since now I'm more confused than ever! First, a little background... I had a positive endomysial antibody screen last year. GP referred me to a GI, and tried several without success. None thought I had celiac or any issues associated with gluten because I am overweight. I decided to just go gluten-free on my own and felt much better immediately!!! I have been gluten-free for over a year, but about 6 months ago, I began to see a functional medicine doctor who tested me for all kinds of things. The digestive panel came back with lots of malabsorption, but because the igA came back negative, he didn't think gluten was my problem. I tried going back on gluten, but after a couple of weeks stopped because I couldn't take the torture anymore! I knew that no matter what any doctor said, I couldn't eat gluten.

I told this to my doctor the next time I saw him and he had me order the enterolab saliva test, and he said that would tell us for sure. Here are my results from Enterolab:

HLA-DQB1 Molecular analysis, Allele 1 0201

HLA-DQB1 Molecular analysis, Allele 2 0202

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

Interpretation Of HLA-DQ Testing: HLA-DQB1 gene analysis reveals that you have one of the main genes that predisposes to gluten sensitivity and celiac sprue (HLA-DQB1*0201 or HLA-DQB1*0302). Each of your offspring has a 50% chance of receiving this gene from you, and at least one of your parents passed it to you. You also have a second gene that by itself can rarely be associated with celiac sprue (HLA-DQ2 other than by HLA-DQB1*0201), and when associated with one of the main celiac genes, strengthens the predisposition to getting the disease, and with more severe manifestations. Having one celiac gene and one gluten sensitive gene, means that each of your parents, and all of your children (if you have them) will possess at least one copy of a gluten sensitive gene. Having two copies also means there is an even stronger predisposition to gluten sensitivity than having one gene and the resultant immunologic gluten sensitivity or celiac sprue may be more severe

After reading the results, I thought that finally I had a diagnosis for celiac--not that I want one, but I've been struggling with doctors telling me that there is nothing wrong with me for so many years that I would love to finally have an official dx, even though I know I don't need one to be gluten-free.

I went to the doctor today to discuss the results and he said that I don't have celiac, because I need 2 genes to have celiac and I only have one celiac gene and one gluten sensitivity gene. I'm now more confused because I was under the impression that if you have one gene and have the symptoms, you have celiac. He did say now that the problems I'm having are secondary and caused by the gluten and that I have to be gluten-free for the rest of my life--which I already knew, and he suggested that I put the entire family on a gluten-free diet, which they mostly are unless we eat out, since they will carry at least one or the other gene.

Here is where I'm mainly confused:

1. I thought that you can have celiac with one gene.

2. Doc says I don't have celiac, but I need to be gluten-free for the rest of my life. I thought all along the problems I've had were from celiac (self-diagnosed), but if I don't have celiac then why do I need to go gluten-free for the rest of my life?

3. What is the difference between celiac and gluten sensitivity/intolerance?

Anyway, I would REALLY appreciate any help in explaining to me what these results mean. I'm not scientifically minded and I've tried to read explanations as to how to interpret genetic results, but its going way over my head. I have always gotten great feedback and advice on this site so I thought I would try again. Sorry for the lengthy post but thank you for your time!!!

[Emilushka]

You have some really great questions. I'm a medical student, almost a doctor, and I have Celiac. However, you asked such great questions that although I will do my best to help answer, I'm not sure I can answer them all appropriately. I'm hoping the other group members will be able to jump in and correct me and supplement with more information.

Question 1: I thought that you can have celiac with one gene.

To my understanding, the genetics only predispose you to Celiac. I do not know why you would need two genes in order to have Celiac. So I agree with you here: only takes one gene to predispose you to Celiac. Maybe two genes would predispose you MORE, but it only takes one.

Question 2: Doc says I don't have celiac, but I need to be gluten-free for the rest of my life. I thought all along the problems I've had were from celiac (self-diagnosed), but if I don't have celiac then why do I need to go gluten-free for the rest of my life?

This one throws me for a loop. You had a positive anti-endomysial antibody ... I'm confused by this part. Other people? Help?

Question 3: What is the difference between celiac and gluten sensitivity/intolerance?

I think this has to do with mechanisms. Celiac describes a particular autoimmune disorder in which your immune system attacks your intestinal wall when gluten binds to the enzyme that normally breaks it down. Maybe there's another kind of intolerance your doctor is thinking of. Again, this confuses me a little.

I realize I'm no expert, but I didn't want your questions to go totally unanswered. Please take what I say with a grain of salt until others have weighed in with more help.

[ravenwoodglass]

First, a little background... I had a positive endomysial antibody screen last year. GP referred me to a GI, and tried several without success. None thought I had celiac or any issues associated with gluten because I am overweight.

These doctors are still under the misconception that all celiacs are rail thin. They are flat out wrong.

I told this to my doctor the next time I saw him and he had me order the enterolab saliva test, and he said that would tell us for sure. Here are my results from Enterolab:

HLA-DQB1 Molecular analysis, Allele 1 0201

HLA-DQB1 Molecular analysis, Allele 2 0202

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

You are a double DQ2, I don't know where your doctor gets the idea you only have one gene that is associated with celiac unless he is under the misconception that you also need to have DQ8. It doesn't sound like he knows alot about celiac.

Here is where I'm mainly confused:

1. I thought that you can have celiac with one gene.

Yes you can be celiac with only one gene and you can be celiac even without DQ2 or DQ8 although they are the most common celiac associated genes.

2. Doc says I don't have celiac, but I need to be gluten-free for the rest of my life. I thought all along the problems I've had were from celiac (self-diagnosed), but if I don't have celiac then why do I need to go gluten-free for the rest of my life?

IMHO with your symptoms your genes and your results on the diet I would be comfortable with your calling yourself celiac

3. What is the difference between celiac and gluten sensitivity/intolerance?

Both cause autoimmune reactions but the systems effected are different. Doctors will sometimes call someone gluten intolerant if they don't have severe GI problems or totally destroyed villi and the antibodies are attacking the brain, joints or other organs instead. Since your doctors refused to do a scope they don't know whether your scope would label you a celiac (flattened villi) or not.

Stay on the diet, heal and don't worry about how you are labeled.

[cassP]

1st- your Endomysial Antibodies were Positive. the EMA is ONLY specific to Celiac. a positive EMA is not associated with anything other than Celiac.

2- you said your Iga was negative- and your doc says you cant have celiac... well if you're Iga deficient- than Iga tests could very easily be false negative.

- i agree with ravenwood- in my opinion i would say you are Celiac. also the DQ2s are "classic" for predisposing one. put that together with all of your symptoms- and you should "label" yourself Celiac and go gluten free.

also- i was always heavier on gluten. swollen, bloated, and chunky... i feel much better now, as long as i dont eat too many gluten free cookies and bagels

[ravenwoodglass]

also- i was always heavier on gluten. swollen, bloated, and chunky... i feel much better now, as long as i dont eat too many gluten free cookies and bagels

I was too. Toward the end, like the last 5 years before diagnosis, I was also the heaviest and most bloated I had ever been in my life. Most doctor would have considered my weight at that time just a high average but I had always been very slender and within a month gluten free I lost 20 lbs I went from a size 14-16 down to a 4. I was actually worried about the loss at first but I have held steady at a 2-4 now for the eight years since I was diagnosed.

[mom26boys]

Thank you all so much for your responses. I'm sorry it took me so long to reply back. I love this forum because everyone here is so knowledgable and always willing to help. It is so nice to have a forum to go to where you are validated and don't feel like you're going crazy like the conventional medical establishment would have you believe! I don't understand the medical establishment's reluctance to label someone as celiac, when all test results/symptoms point to it. It seems like every doctor I've seen about this, refuses to give me the "official" diagnosis. Its almost as if that is going to cost them something!!!

Emilushka, thank you for responding to my post. As a future doctor who understands celiac from a personal level, you will be in a great position to make a difference to folso many people who suffered for years without any hope. Keep up the great work and I wish you great success with your career!!!

ravenwoodglass, you have no idea how much you have helped me since I began my gluten-free journey over a year ago! You have responded to all of my posts and have always offered some great advice! Thank you for what you do on this forum--Its people like you who make this forum so invaluable to people out there searching for a little hope and not finding it in the mainstream medical community. Thank you!!!

cassP, thank you for your insight and your response! It makes so much since to me. I had read that EMA is 100% specific to celiac, but no doctor I've talked to has confirmed that and they have told me that it could be all kinds of other things, but none can give me examples of what it could be! I am beginning to think they just don't know and don't want to admit it.

Anyway, thank you all again for what you do. You really do make a difference here. This forum is the best!!!