Genetic Tests Results (Help Request)

[starla]

Hello,

I've been a lurker for some time but I finally got a Dr to do a genetics test and would love some help w/my results. I went to a Genetics Counselor and he ordered the test from the Mayo Clinic. My results are negative for DQ2 and DQ8 - that part I understand.

For the first time however, I have a Dr who listened to my background (family history), my symptoms that have plagued me for so many years, and my ideas that it all related to gluten mostly (corn and dairy are also a problem for me). He also believed me when I told him how I went on a gluten free diet, and my symptoms were resolved - some with in a few days to a week and the rest by a month afterward. My sister had the same result and we had lived in two different states at the time and didn't even know each other were having the same symptoms until we finally talked about it one night and she went on the diet w/success. I tried it a few months later and was literally "cured."

Anyway, this Dr - with all the negative other tests (see my About Me for full list) - still believes I probably have a rare form or celiac that is yet to be discovered. He believed that science hasn't found all the genes associated with the disease. He also believed that with my symptoms and other overwhelming evidence (including some ancestors being Irish and Dutch - - I'm adopted however and don't know full family history), that I do have some gluten sensitivity to some extent.

He also believes my skin issues might be DH - - however, I've never gotten into a Dr when I had the actual blisters to get a biopsy.

My question is that I wanted to see if anyone could tell me the serological equivalent of my results like the Entrolab results are given. DQx/DQx. As you can see, Mayo Clinic gives you Alpha and Beta but not the "shorthand" version that Entrolab does... Can anyone help me with this? I would like to know if I have the gene for "gluten sensitivity as Dr Ken Fine's research has shown (controversially, as we all know).

Genetic Tests Results from Mayo Clinic (Aug 2010):

Celiac Associated HLA-DQ Typing

DQ alpha 1 0102, 0210

DQ beta 1 0303, 0602

No Celiac genes present. The absence of HLA Celiac permissive genes would make the presence of Celiac disease unlikely. Method: High Resolution Molecular Testing

Thanks in advance to you all!

[Skylark]

Going by Open Original Shared Link, you're DQ6.2 and some sort of DQ9. That A*0210 allele isn't very common and it's not even on the Wikipdeia chart.

So yes, you are "genetically gluten sensitive" by Fine's accounting, along with over 99% of the US population. In seriousness, I think Ravenwoodglass is double-DQ9 and she's biopsy diagnosed.

Your doctor sounds unusually open-minded. He is correct that HLA-DQ is not the whole story and there are other genes. We're just not sure of them yet.

[starla]

Thanks so much for answering!

Like most people on this quest (it seems), I ran into mostly unhelpful, dismissive Drs. Most made me feel like a hypochondriac and one even said that it could be in my head. Partly, it's my fault - I tried a gluten free diet (very successfully) before getting tested. I wanted to know if I was barking up the right tree before pursuing all of this and therefore, my tests (antibody/allergy) might not have been as accurate as they could have been. I've even tried to ask Drs for new ideas - what else could it be and I've gotten the same suggestions as a lot of gluten intolerant/sensitive people on here: GERD, etc.. But understandably on their part, my tests are negative and I seem healthy. I am healthy - as long as I stay off gluten. I was a very sick person on gluten for years - going off of it literally cleared up almost everything. Taking out corn and dairy, I'm completely healthy. Not to be over dramatic but I would say (and those close to me would say) that it's completely changed my life.

Anyhow, my Genetic Counselor had worked it out for me like this:

3.1 6.1

3.2 6.2

Over the phone he said it was DQ3 and DQ6 but he had messed up the 1st time (had the decimal numbers above backwards) so I just wanted to make sure he was right this time. I had read that on Wikipedia (I think) how the DQ3 turns into 9 but I wasn't sure if it did in my case... so that means its not DQ3 at all? I saw on Dr Fine's controversial research that .1% or less are either DQ1 or DQ3 so I was thinking I was in that category (gluten sensitive).

You even wrote "6.2" just like the Dr did.... I've never seen the decimals on other people's results or online. Is this how everyone's code is written or is there something different about mine?

Has anyone seen any research where the 0201 is on the Alpha instead of Beta? Is there any significance Celiac/Gluten Sensitive-wise? Or am I beating a dead horse here... I probably just need to stop searching, do what my body responds to and be "okay" with my non-diagnoses.

Sorry I have so many questions. I just really would like to know whats going on w/my body. Thanks again skylark for your help!

[Skylark]

There is a lot of info about HLA-DQ in that wikipedia article. There are two halves to the molecule, alpha and beta. The first number comes from the beta half and that's all many labs test. So if you only knew you had 0602, you would be DQ6. The thing that's different is not you, but your tests. You had alpha chain tests as well as beta so we can narrow down the type of DQ6 with the alpha chain to DQ6.2.

DQ3 is an old number based on blood tests, and once the genetic tests were invented scientists realized that DQ3 was a mix of different alleles so they were renamed DQ7, DQ8, and DQ9. That means DQ3 is the old name for your other gene, and DQ9 is the newer one.

What your genetic tests say is that according to current understanding (which is rather incomplete) you are not at increased risk for celiac. We do NOT have all the genetics sorted out and it's pretty clear that HLA-DQ is not the full story. "Low risk" is not the same as "no risk" and if you feel that much better off gluten you are definitely gluten sensitive and possibly celiac with the DH.

[ravenwoodglass]

Just a quick note. A diagnosis of DH is a diagnosis of celiac and no more testing would be needed. If you have active lesions go to a derm and ask for a biopsy but make sure they know how to biopsy for DH. They need to biopsy next to the lesion and there is a special test to find the antibodies in the slide.

[starla]

Skylark: Wow!! Thank you so much for taking the time to explain a difficult concept in layman's terms. I have seriously been reading all over this board, reading wikipedia, etc. trying to understand and figure it out myself. The way you said it completely cleared up my confusion.

Ravenwoodglass: I have seen on the board you are 9,9 - it gives me hope that maybe I am on the right path and not just shooting in the dark at a disease. I have so many of these freaking symptoms though and finally a Dr who supported my theory. Anyhow, you are so right and I've actually entertained thoughts of consuming enough gluten to get the bumps to come back. I actually should take back what i said earlier about never having been to a Dr when I had the bumps because I actually did have one blister the morning I went to this terrible/rude/dismissive GI and it popped as I itched it. It didn't come back in time for him to see it and when I tried to show it to him he said, "I don't do finger biopsies." I wasn't asking him to do one - I just wanted an actual Dr to see my skin when it's actually happening!!

Anyway, when I look at the pics online of DH I think a couple things that may be different for me...

1. I've never gotten that many bumps at one time. But then again, I've been off gluten for 1.5 years+ and when I mess up, it's a very small amount so none of my reactions are as bad as they used to be except bathroom issues/stomach issues/etc..

2. I actually get two different kinds of bumps on my fingers:

I get blazing red, intensely itchy skin first step - - -I know the bumps are coming next.

The next day or so the bumps are here... some bumps are very small and flesh-colored on flaming red skin and in tight groupings - they itch like the dickens. The 2nd type are bigger bumps that are fluid filled and wet when they pop. They may or may not re-appear after I itch them gone.

Okay, then I've also gotten itchy very red bumps on my upper arms that scab over. If I itch the scab off - it comes right back. These bumps stayed for about two weeks last time I messed up on gluten. Interestingly, the bumps on my fingers really don't scab - they just pop and are a wound and then the fluid-filled bubble may come back in the same spot or not.

I don't think I really get the purple marks after the bumps go away...

Also, on my fingers (not on my arms), I get eczema looking skin - dry, cracked, flakes if I itch.

So I dunno if this is DH or not!?

Recently, I also got some bumps on the sides of my face. I thougth they were acne when they first appeared but realized I keep itching them. Acne has never itched. There are no white heads - they are red. They are also not going away - just like the shoulder bumps - they have been around for 1-2 weeks now.

Do you have DH Ravenwoodglass??

Thanks again for BOTH of your replies. It's so much appreciated!!! And for all the work you do on this board - I see so many of your posts helping people.

[ravenwoodglass]

Do you have DH Ravenwoodglass??

Yes. I had it really bad as a child and they told my Mom I had poison ivy in my bloodstream to explain why I had the rash year round. The 'bumps' on your fingers sound like what I get now when I get glutened. Once we have been gluten free for a while the antibodies leave the skin and the outbreaks when we get them are much less severe. There is one thing you can do at home to test for DH, and it was the way they diagnosed it back in the 'old days'. You can get some iodine from the pharmacy, the liquid kind that you would use on wounds, put some on the inner arm and cover it with a bandaid. Leave it there for a day or two and if it is DH when the bandage is removed you should have a blistery rash. There are other skin issues that are also associated with celiac like excema.

You could also see a knowledgeable derm who will give you a standing order (I think thats what it's called) which would allow you to call the office and come in when the rash gets activated so that it can be biopsied. You would call the day the rash appears and they would fit you in that same day.

[Skylark]

OMG. Iodine breaks me out. If I don't wash off Betadine really, really well I get an itchy rash from it. I don't think it's ever blistered, but I've never left it on, let alone covered it! I bet those super-itchy blisters I used to get on my fingers were DH.

Starla - glad to help. I get a ton of knowledge and help myself on this board with gluten-free products and tips, so I like to try to help folks with the science.

[starla]

Will the iodine test still work if you are gluten free? I've been avoiding it for about a 1.5 yrs. I have had a couple mess-ups and seem to be cross contaminated a couple more times. But overall, I've been very diligent and pretty much make things from scratch.

Walmart sells "Povidone-Iodine Solution 10%." Ingredients: citric acid (prob from corn so that could be an issue for me), disodium phosphate, glycerin, nonoxynol-9, purified water, sodium hydroxide. Will it still work w/the inactive ingredients?

How long does it take most people with DH for the blisters to appear using this method? I'm reading a variety of results it seems - some w/in 30 min and others it's taken 2-3 days. Does this sound right?

Thanks again you two!

Skylark - Just another symptom to throw on the fire huh? lol.

[Skylark]

Skylark - Just another symptom to throw on the fire huh? lol.

I went gluten-free on my own and was never diagnosed but I bet I am truly celiac and not gluten intolerant. No shortage of symptoms, for sure.