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Celiac Diesease Without Classic "celiac" Genes?


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6 replies to this topic

#1 MsModelSara

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Posted 14 July 2010 - 06:22 AM

Hello everyone. I've finally decided to write my first post on the forums here. I have been following other threads and researching for months now. I'll give a little background on why I'm posting before I start asking my questions: (i apologize for the length)

I have been having random symptoms for so long now, but they have been slowly increasing in severity. Since high school, I have had issues with dry skin and fatigue as well as migraines. I had my wisdom teeth removed in 2006 and the migraines stopped for awhile. In 2005 I got my hypothyroidism diagnosis and that "explained" the extreme fatigue and weight gain and dry skin, hair falling out and all that goes along with hypothyroidism and was prescribed thyroid hormones. I have battled anemia since birth on and off. I have also kept my symptoms of hypothyroidism despite being on hormones, my Dr was looking at me like I was a hypochondriac for repeatedly returning complaining of symptoms. Still always VERY tired, hair falling out, itchy dry skin, my migraines have returned, random constipation/diarrhea. *sigh* I then got my diagnosis of Hashimoto's Thyroiditis (last August) because I got referred to an Endocrinologist finally and she also tested me for Celiac antibodies and it came back negative. My Hashimoto's was very positive though. The normal range is below 20 I believe and mine was over 270. So I have an autoimmune condition causing my thyroid problem. I was doubled on my thyroid hormone and my Vitamin D has stayed low despite taking 50,000 IU a month. That was doubled as well, I am supposed to take that twice a month now. SMH!!! Why just double it and hope it goes up (it stays around 19 despite taking the rx D) and NOT try to figure out why I am not absorbing it?!?! I left it alone for a few months but was still having this nagging in the back of my mind telling me to retest for celiac. I ordered a test from EnteroLab and sent it in. Here's what it told me:

A) Gluten Sensitivity Stool and Gene Panel Complete *Best test/best value
Fecal Anti-gliadin IgA 29 Units (Normal Range is less than 10 Units)

Fecal Anti-tissue Transglutaminase IgA 16 Units (Normal Range is less than 10 Units)

Quantitative Microscopic Fecal Fat Score Less than 300 Units (Normal Range is less than 300 Units)

Fecal Anti-casein (cowís milk) IgA 13 Units (Normal Range is less than 10 Units)

HLA-DQB1 Molecular analysis, Allele 1 0602

HLA-DQB1 Molecular analysis, Allele 2 0602

Serologic equivalent: HLA-DQ 1,1 (Subtype 6,6)
Interpretation of Fecal Anti-gliadin IgA: Intestinal antigliadin IgA antibody was elevated, indicating that you have active dietary gluten sensitivity. For optimal health, resolution of symptoms (if you have them), and prevention of small intestinal damage and malnutrition, osteoporosis, and damage to other tissues (like nerves, brain, joints, muscles, thyroid, pancreas, other glands, skin, liver, spleen, among others), it is recommended that you follow a strict and permanent gluten free diet. As gluten sensitivity is a genetic syndrome, you may want to have your relatives screened as well.

Interpretation of Fecal Anti-tissue Transglutaminase IgA: You have an autoimmune reaction to the human enzyme tissue transglutaminase, secondary to dietary gluten sensitivity.

Interpretation of Quantitative Microscopic Fecal Fat Score: Provided that dietary fat is being ingested, a fecal fat score less than 300 indicates there is no malabsorbed dietary fat in stool indicating that digestion and absorption of nutrients is currently normal.

Interpretation of Fecal Anti-casein (cowís milk) IgA: Levels of fecal IgA antibody to a food antigen greater than or equal to 10 are indicative of an immune reaction, and hence immunologic ďsensitivityĒ to that food. For any elevated fecal antibody level, it is recommended to remove that food from your diet. Values less than 10 indicate there currently is minimal or no reaction to that food and hence, no direct evidence of food sensitivity to that specific food. However, because 1 in 500 people cannot make IgA at all, and rarely, some people can still have clinically significant reactions to a food antigen despite the lack of a significant antibody reaction (because the reactions primarily involve T cells), if you have an immune syndrome or symptoms associated with food sensitivity, it is recommended that you try a strict removal of suspect foods from your diet for up to 12 months despite a negative test.

Interpretation Of HLA-DQ Testing: Although you do not possess the main HLA-DQB1 genes predisposing to celiac sprue (HLA-DQB1*0201 or HLA-DQB1*0302), HLA gene analysis reveals that you have two copies of a gene that predisposes to gluten sensitivity (any DQ1, DQ2 not by HLA-DQB1*0201, or DQ3 not by HLA-DQB1*0302). Having two copies of a 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 the gene. Two copies also means there is an even stronger predisposition to gluten sensitivity than having one gene and the resultant immunologic gluten sensitivity may be more severe.


So I understand why my body has so many issues: I cannot digest gluten or casein. My body attacks these things like a virus, and also causes my body to attack my thyroid when I ingest them.

But my question is this: Can you have Celiac without having the classic DQ2 or DQ8 genes? I've read there are other genes that are known as Celiac genes in other countries but just not here in the states. And I've even read people's stories where they have developed Celiac without having any Celiac genes due to a stressful life event or illness. So if I am told I have severe gluten sensitivity, and gluten sensitivity is the precursor to full blown Celiac....how can I be told that i definitely won't develop Celiac? I don't understand Doctors. I was doing an almost gluten-free diet when I was doing a weight loss program with a Dr. office to jump start my weight loss and was feeling so great. When the program ended, I was able to re-add carbs and breads etc...Im so bloated, I feel sick when I eat most of the time. When I have to go to the bathroom....I NEED to go as soon as I feel the urge, I can't "hold it". I get real bad gas cramps or pains, my fatigue....ugh Im always tired! I've also noticed bone pain....I don't know how long I've had it because I'd always notice it but it's like shooting pains and goes away after a few minutes. Sometimes it's in my forearms, more often in my lower back or back side of my hips and tailbone, a lot in my shins, sometimes my thigh bones, and the sides of my feet. It's not an all day thing, but at least once a day somewhere i'll get shooting pains somewhere. If I sit too long on a hard surface, my tailbone and low back kill me and it takes me a few minutes to stand up and straighten myself out. Did I mention I'm only 25? :-( Or if I lay on the floor on my back I have to hand my legs bent otherwise the pressure on my back is too intense and painful. My calcium has always tested normal though so I guess this is why no Doctor has ever evaluated my bone density or anything.

Alright, I'll end my novel for now and see what anyone has to say. I really appreciate everyone's time reading all of my story and any feedback you have to offer me. I need help and support and guidance on where to begin and what to do....

Sincerely,
Sara

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#2 Looking for answers

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Posted 14 July 2010 - 08:23 AM

Hi,

I seriously could have written the same post. I've gone through exactly the same symptoms, tests and experiences, except I haven't been put on thyroid meds yet (my T3 hormone fluctuates from being low to low normal.

I also have the exact genes you do.

Iíve had blood tests and a biopsy (done one year after going gluten-free, so pointless) done but have never been diagnosed with Celiac. I canít tell you though how much better I feel since eliminating gluten, dairy, and soy from my diet.

I donít have any further advice, but I can tell you that Iíve given up on trying getting a diagnosis. What it really comes down to is that I feel horrible eating gluten and like a whole new person when I donít. So, eating it is and will never be an option. I recommend you read Dangerous Grains if you need more information. Very good read.

Also, itís very important (as you know) to get your vitamin D back up. Two suggestions: check out sublingual vitamin D (to bypass your stomach all together). I get mine from dr.mercola.com. However, the best way and most accessible way to get it is the sun. Iím very fair skinned and both my brother and sister have had skin cancer already (in their later 20ís) so I take sunbathing seriously. This is all explained on dr.mercola site for free, but here is roughly what he recommends. Go out into the sun at the highest points of the day 11-1, I believe, and lay out until you turn the lightest pink (longer if you arenít Caucasian, I am so itís easy for me to tell). I usually lay out for 7-10 minutes each side on my sun deck. Believe me this isnít enough to get tanned Ė Iím still pitch white. :blink: However my vitamin D levels are perfect!

Good luck
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2010- Gluten, Soy, Corn, Dairy, Eggs, Nut free. Sugar, non-gluten grains lite(Yes, still plenty to eat!)
2010-Doctor diagnosed me as Celiac then took diagnoses back, then said avoid gluten for life
2009 Ė Low T3 thyroid hormone, muscle twitching and adrenal fatigue
2006- Elevated Speckled ANA. GI suggested Celiac. Started gluten-free diet, but sloppily
2005 - Thought I had wheat "allergy." Stopped eating bread, oats problem too
College years - Still vegan -sickest point in life. Every classic celiac symptom
Teenage years - Stomach pain prompted veganism -> BIG mistake!
Child - Awful gas, D, C. Chronic infections, appendix and tonsils removed

#3 Skylark

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Posted 15 July 2010 - 09:59 AM

Hi, there. Stop eating gluten and stop worrying about pieces of paper and diagnoses. :)

There is not enough known about celiac disease and the genes to make ANY conclusions. For starters, HLA-DQ is definitely not the whole story. There are people of every HLA-DQ type that get sick from gluten. Most but not all celiacs are DQ2 or DQ8.

There is also some evidence for non-celiac gluten sensitivities of various types so you can't necessarily get hung up over whether you are celiac. If gluten makes you sick, it makes you sick.

As for the Enterolab stuff the Enterolab tests are interesting, but Dr. Fine has not done enough research to substantiate what he sends out with his test results. Just about everything you have underlined is the stuff I find particularly overstated and poorly substantiated in those reports. :lol: His interpretations are just not consistent with the published, peer-reviewed scientific literature.
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#4 MsModelSara

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Posted 15 July 2010 - 10:58 AM

Hi,

I seriously could have written the same post. I've gone through exactly the same symptoms, tests and experiences, except I haven't been put on thyroid meds yet (my T3 hormone fluctuates from being low to low normal.

I also have the exact genes you do.

Iíve had blood tests and a biopsy (done one year after going gluten-free, so pointless) done but have never been diagnosed with Celiac. I canít tell you though how much better I feel since eliminating gluten, dairy, and soy from my diet.

I donít have any further advice, but I can tell you that Iíve given up on trying getting a diagnosis. What it really comes down to is that I feel horrible eating gluten and like a whole new person when I donít. So, eating it is and will never be an option. I recommend you read Dangerous Grains if you need more information. Very good read.

Also, itís very important (as you know) to get your vitamin D back up. Two suggestions: check out sublingual vitamin D (to bypass your stomach all together). I get mine from dr.mercola.com. However, the best way and most accessible way to get it is the sun. Iím very fair skinned and both my brother and sister have had skin cancer already (in their later 20ís) so I take sunbathing seriously. This is all explained on dr.mercola site for free, but here is roughly what he recommends. Go out into the sun at the highest points of the day 11-1, I believe, and lay out until you turn the lightest pink (longer if you arenít Caucasian, I am so itís easy for me to tell). I usually lay out for 7-10 minutes each side on my sun deck. Believe me this isnít enough to get tanned Ė Iím still pitch white. :blink: However my vitamin D levels are perfect!

Good luck


Thank you for replying! I work outdoors so I am in the sun although I wear spf 55 at least...and I don't have time to tan outside lol. I got to school full time, intern and work so I will have to resort to taking vitamin D but a version other than the high doses of D2 in Rx form because that clearly doesn't work for me.

I will check out that site though for sure, thank you again!


Hi, there. Stop eating gluten and stop worrying about pieces of paper and diagnoses. :)

There is not enough known about celiac disease and the genes to make ANY conclusions. For starters, HLA-DQ is definitely not the whole story. There are people of every HLA-DQ type that get sick from gluten. Most but not all celiacs are DQ2 or DQ8.

There is also some evidence for non-celiac gluten sensitivities of various types so you can't necessarily get hung up over whether you are celiac. If gluten makes you sick, it makes you sick.

As for the Enterolab stuff the Enterolab tests are interesting, but Dr. Fine has not done enough research to substantiate what he sends out with his test results. Just about everything you have underlined is the stuff I find particularly overstated and poorly substantiated in those reports. :lol: His interpretations are just not consistent with the published, peer-reviewed scientific literature.


Hello,

Thank you as well for replying. It's not that I'm hung up on a piece of paper or a diagnosis....it's about wanting answers on whats going on inside my body. BIG difference. And I thought maybe by asking these type of questions in a place where other people experience what I do that someone may be able to point me in the right direction is all. I'm very new at this idea of gluten making people sick and causing other diseases, etc... It's insane!! *sigh* But I will stop eating gluten and stop chasing after a diagnosis. All i'm really after is information and support from people who have been through what I'm going through now.
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#5 Skylark

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Posted 15 July 2010 - 12:01 PM

I've been doing a lot of reading lately on gluten intolerance/celiac, and I can tell you with reasonable certainty that the answer is not out there yet. Celiac disease is reasonably well understood, but there are very clearly people who do not have celiac by any measure and yet cannot eat gluten. There are other people with gluten-sensitive autoimmunity in other parts of their bodies. The genetic studies point to multiple loci, not just DQ2/DQ8. HLA-DQ does have very high LOD scores in celiac familes, but there are other genes with significant scores, and other loci near HLA-DQ that could be involved (like HLA-DR).

Some doctors and scientists want to lump all gluten intolerance in with "celiac" but there is actually not compelling evidence for doing that just yet. There are interesting studies showing that gliadin peptide activates parts of the immune system that are separate from celiac autoimmunity.

Dr. Fine at Enterolab is taking advantage of the confusion to some degree. Anti-gliadin stool antibodies are rather common, and there is peer-reviewed research that very clearly shows the meaning is not as cut-and-dry as he suggests. They appear and disappear in some people, and actually seem to be part of normal mucosal immunity in many people. This gets back to a question of non-celiac reactions to gliadin in some people.

Now while I can't offer that much information, I can offer support. I totally understand how wretched the double-whammy of gluten intolerance and Hashimoto's makes you feel! I'm just getting my thyroid sorted again after another episode of nodules and hypothroidism. (ugh)
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#6 nora_n

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Posted 16 July 2010 - 02:04 AM

I have a similar hypothyroid story, thyroid meds almost did not work.

Turns out I am double DQ5.

Dr. Hadjivassiliou found 20% of his glutan ataxia patients are DQ1 (DQ6 and DQ5 are DQ1)

There are even two-three forums for people like that, where many are DQ1 but they have lots of issues from gluten.

There was at least one officially diagnosed DQ6 here, with antibodies and biopsy.
Someone else knew about one in her support group.
There was a posting about a diagnosed celiac who had the diagnosis a while, and then a random gene test found DQ6 and she lost the diagnosis, but that was before the two above ones.

Maybe a serch on DQ6 can bring up the thread from the officially diagnosed one.
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gluten-free since may 06 after neg. biopsy symptoms went away and DH symptoms which I had since 03 got gradually better.
daughter officially diagnosed celiac and casein intolerant.
non-DQ2 or DQ8. Maybe DQ1? Updated: Yes, double DQ5
Hypothyroid since 2000, thyroxine first started to work well 06 on a low-carb and gluten-free diet
Lost 20 kg after going gluten-free and weighing 53 kg now. neg. biopsy for DH. Found out afterwards from this forum that it should have been taken during an outbreak but it was taken two weeks after. vitaminD was 57 nmol/l in may08)

#7 VitaminDGirl

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Posted 17 July 2010 - 09:54 PM

[quote name='MsModelSara' date='15 July 2010 - 12:58 PM' timestamp='1279220298' post='624230']
Thank you for replying! I work outdoors so I am in the sun although I wear spf 55 at least...and I don't have time to tan outside lol. I got to school full time, intern and work so I will have to resort to taking vitamin D but a version other than the high doses of D2 in Rx form because that clearly doesn't work for me.

I will check out that site though for sure, thank you again!


Hi--D3 is what you need to supplement with to get the levels up, not D2 as formally thought...
yes, Dr. Mercola has some good info and links about "D".

My handle is 'vitamin D girl' because I was recently deficient and have my numbers up and pain is less. Hope that helps! Oh, and you siad you wear 55 sunscreen. Maybe you could put it on after working in the sun for 20 min. each day to ensure you get the D. Otherwise you are blocking the good rays that help you soak in the D3. I am fair-skinned and avoided the sun and have been studying up so much on it. The many diseases one can die from with low D levels out numbers the risk of fatal skin cancers. From what I've recently researched.

but you can look into it yourself and hopefully get some relief, soon.
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