Genetic Test Results

[kwillmorth]

Hi everyone,

This is my first post here, but I've been reading posts for about a month now. A big thanks to you all for the information already shared - it has been immensely helpful.

I arrived here after starting a food allergy/elimination diet back in June on the advice of my ND. Three days into the elimination stage I began to feel WONDERFUL. Symptoms like fatigue, depression, irritability, unexplained abdominal pain, etc. were all just gone. I had more energy than I'd had in 8 years. And within a week I'd lost 4 lbs. I should add that about 8 years ago I went from a healthy, no-problems-ever-with-weight weight of 125 to about 175 within a year. I was also under a great deal of stress and was briefly treated for depression at that time. I think that is when the celiac/gluten intolerance was triggered. After I gained all the weight and decided I wanted children, I turned my diet around to cut out processed foods, caffeine, and eat whole foods as much as possible. I exercised. I had two children and was able to VERY slowly lose some weight and at the very least, not to gain more. However, over the span of about 6 years I maybe lost a total of 20 lbs. On the elimination/challenge diet, I not only felt better, but I lost 25 lbs in 2 months! I was never starving, either and ate plenty of good food. Anyway, gluten was the biggest culprit and I was so shocked that I challenged it 3 separate times because I just couldn't believe the reactions I was having. The only other problems I had were with nitrates, pork, cane sugar and possibly tomatoes.

Once I had that result I started researching and came upon celiac. Of course I found that if I wanted the traditional tests done I would need to be consuming gluten for a long time and I wasn't willing to do that again. My ND had another patient who had had genetic testing done at a lab in Oregon, so I went ahead with them. I was paying out of pocket, so I couldn't do the whole shebang test at Kimball or Prometheus. I got the following results and was hoping someone could help me understand a bit more about the DQ2 and the DQ6 result. I do understand that the DQ2 is "necessary but not sufficient" for celiac, but it is sufficient enough for me. =) What I would like to know, though, is more about the 0201 part, and any leads anyone can give me to do more research on the DQ6 result. I read some on wiki, but couldn't find much on DQ6. Maybe there just isn't much.

Here are the results: (they were in a chart form as follows)

LOCUS AG1 AG2

DQB 0201 06DASX

Serological Equivalent DQ2

Allelic Results

[kwillmorth]

Ooops! Posted too fast. Here we go again:

LOCUS: AG1 AG2

DQB: 0201 06DASX

Serological Equivalent: DQ2 DQ6

Allelic Results: (under AG2) DQB*0602/11/33

Any thoughts specifically on the info under "Allelic Results?"

Also, has anyone had experience with normal hemoglobin/iron levels, but low Ferretin levels? My Ferretin was not below the low limit placed by the lab (which is like 5 or something), but it was about 30 (before the elimination diet). My ND says she thinks that is actually low and likes it to be much closer to 100. She put me on an iron supplement which seemed to help my energy level and gasping out-of-breath feelings right away. However, after re-testing 3 months later, (on a no, or at least very low, gluten diet) it has not risen. Going off the supplement brought back the fatigue and now she has me on it again while we pursue malabsorption issues. My triglyceride levels are also very low - has anyone experienced that as a symptom of malabsorption of fats? My overall cholesterol is fine, however, and I have a "good" level of the "good" cholesterol. My LDL, however, is high.

I'm sorry for the long story and all the varied questions. Feel free to answer just parts (if you answer at all =). This site has been so helpful already!

Cheers,

Krista

[Mother of Jibril]

Welcome to the group!

I have two thoughts for you...

1. Hemoglobin is the iron circulating in your red blood cells. Ferritin is the iron you have in storage. So it definitely IS possible to have low ferritin and normal hemoglobin... 30 is pretty low for ferritin. Have you considered taking your supplement with acid for better absorption? Orange juice is good. I've been taking my multivitamin with a packet of Emergen-C. I also discovered that I have low stomach acid, so I've been taking a small supplement of Betaine HCl (250 mg) with lunch and dinner and it seems to be helping my digestion.

2. Have you ever had your thyroid checked? That could help explain the fatigue, high LDL, and difficulty losing weight. It's pretty common for people with gluten intolerance to have thyroid issues... it's also common as you get older (as many as 1 in 5 people over age 60 is hypothyroid).

[kwillmorth]

1. Hemoglobin is the iron circulating in your red blood cells. Ferritin is the iron you have in storage. So it definitely IS possible to have low ferritin and normal hemoglobin... 30 is pretty low for ferritin. Have you considered taking your supplement with acid for better absorption? Orange juice is good. I've been taking my multivitamin with a packet of Emergen-C.

Thanks for your response. I should probably be more conscious of when I take the iron supplement (and with what). But I do try to do as much dietary-wise as I know to do. The iron supplement is supposed to be very absorbable, and does seem to help, and I cook almost entirely in cast-iron, especially acid-containing foods like spaghetti sauce. I eat grass-fed organic beef about once/week. My hemoglobin has always been "excellent" for as long as I can remember, but I know my ferretin has been down at 30 or 31 for at least 5 years. Since it wasn't out of the lab range, no doctor ever flagged it as a possible problem until I started seeing the ND. I'm so glad she mentioned it because it does seem to help immediately. What seems strange to me though, is that after 3 months of taking a supplement and a low-or-no-gluten diet, my level had not changed by even a point. I did discover some hidden sources of gluten, and some just plain stupid oversights on vacation, though, so perhaps getting down to zero gluten will do the trick. I hope.

I also discovered that I have low stomach acid, so I've been taking a small sd mupplement of Betaine HCl (250 mg) with lunch and dinner and it seems to be helping my digestion.

My ND had me do the Betaine challenge...NO problems there =). Within 2 minutes of my meal and the first pill I had terrible heartburn and burping. I never have a problem with that otherwise.

2. Have you ever had your thyroid checked? That could help explain the fatigue, high LDL, and difficulty losing weight. It's pretty common for people with gluten intolerance to have thyroid issues... it's also common as you get older (as many as 1 in 5 people over age 60 is hypothyroid).

Yes, I've had it checked several times b/c I had a lot of symptoms. I was sure that was my problem for a couple of years, but all the levels came back fine. Even when checked by a doctor who was willing to treat thyroid problems by clinical symptoms, or at least give a trial, even when lab levels were within "normal." I was nursing a child at the time, so he wanted to wait to treat me. By the time it was no longer an issue, I was feeling quite a bit better and he thought my levels were "good." I had made some dietary changes and was eating very low gluten at the time w/o really intending to, so perhaps that helped with how I felt.

It's all rather confusing. Thanks for your input. I'll get more diligent about taking my supplement with something acid. I've seem to have relapsed over the past three days, as far as headaches and fatigue, so I don't know whether it is the weather change (which does tend to affect me), low iron, or some unknown gluten I ingested at the pot luck at church on Sunday. It is nice to have a good start on the answers though. Now I can begin working on getting the rest of my family tested. At least they're willing.

Cheers,

Krista

[nora-n]

There has been a diagnosed celiac here that lost the diagnosis after a gene test shoed she had DQ6 about a year or so ago.

Some months ago someone had DQ6 and was told she was one of the few officcially diagnosed DQ6 celiacs in the U.S.

In the literature, there are several more in Europe.

In Dr. Hadjivassiliou's articles, he writes that about 20% of his gluten ataxia patients are DQ1 (DQ5 and DQ6 are subgroups of DQ1) and that about 92 % of celiacs are DQ2 or 8 and that most of the rest have half a DQ2 or 8 (?don't remember if half of8) and one or two percent are DQ1.

But the DQ2 is enough to be allowed to officially be celiac if the other tests and symptoms suggest it.

Those with gluten problems and DQ1 often are much more sensitive to gluten than the DQ2 celiacs, and have neuro issues.

That part is probably missing in the wiki on DQ6 or DQ1. RRead the wiki on HLA DQ and HLA DR because they both have good charts of both the alpha and beta chains.

nora

[kwillmorth]

Thank you Nora! That is interesting about the DQ6 b/c I think my mom may have some neuro issues related to gluten sensitivity. She has had some rashes and something like a peripheral neuropathy for over a year now, and CT scans and neurologists say there is really nothing they can find wrong. I think my major symptoms are at least partially neuro in origin as well - depression/anxiety, irritability and headaches. I don't know if headaches are neuro, but I suppose they could be.

So is it correct to say that I got the DQ6 from one parent, and the DQ2 from the other? This is important b/c I'm sending info out to my parents and siblings tonight about next steps and my sister and brother have a different dad. So, if it happened to be mom that gave me the DQ6, I thought they would not really need to test, but it sounds like it could still be an issue. Also, I suppose DQ2 is common enough that *their* dad may have had it. I have to think about this some more. I know my mom should be tested, and I think my sister's daughter has celiac-like issues, but I don't know what to recommend given that the testing prices can get kind of crazy and some have good insurance and others (like me) are on individual plans that could get screwy with an official dx. I just know I needed it to determine whether or not to pursue testing for my kids. And to decide how serious I wanted to get about cross-contamination and all. I guess I will get pretty serious about it now. =) I have had a headache for 3 days now, where they have been gone completely for 3 months. If this is as a result of gluten, I surely want to know and make sure it never happens again.

Thanks again,

Krista

[nora-n]

Yes, DQ6 from one and the DQ2 from the other.

There are even a couple of forums about neurological symptoms from gluten:

Open Original Shared Link

Open Original Shared Link

Be aware that it might be hard to get an official diagnosis with just DQ1....there might be too little gut damage for an official diagnosis of ordinary celiac.

But she might have DQ2 or 8 on the other gene, or have half a celiac gene , testing might show that.

If she manages to get diagnosed for DH, this is as good as a celiac diagnosis.