Avatar universal

got my genetic test results!

EnteroLab   www.enterolab.com
Specialized Laboratory Analysis for Optimum Intestinal and Overall Health
Kenneth D. Fine, M.D.
Medical Director
10875 Plano Rd., Suite 123 Dallas, Texas 75238

Final Laboratory Report

Date: 3/3/2009

Name: Powers, Helen

A) Gluten Sensitivity Stool and Gene Panel Complete *Best test/best value
Fecal Anti-gliadin IgA    26 Units   (Normal Range <10 Units)

Fecal Anti-tissue Transglutaminase IgA    17 Units   (Normal Range <10 Units)

Quantitative Microscopic Fecal Fat Score    <300 Units   (Normal Range <300 Units)

Fecal Anti-casein (cow's milk) IgA    10 Units   (Normal Range <10 Units)

HLA-DQB1 Molecular analysis, Allele 1    0201  

HLA-DQB1 Molecular analysis, Allele 2    0501  

Serologic equivalent: HLA-DQ   2,1  (Subtype 2,5)

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 (cow's 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 "sensitivity" 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:  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 non-celiac gene predisposing to gluten sensitivity (any DQ1, DQ2 not by HLA-DQB1*0201, or DQ3 not by HLA-DQB1*0302). 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 disease may be more severe.

So that explains the digestive problems. But I still wanted info about my neuro problems (peripheral neuropathy, rheumatoid arthritis) and I found this out about DQ1:

95% of all those with celiac disease will show one of two genetic markers, HLA DQ2(90%) or HLA DQ8 (5%). As many as thirty percent of the population carry this genetic makeup but only one percent develop Celiac Disease.

Another marker, HLA DQ1, has been identified by both Dr. Kenneth Fine and Dr. Marios Hadjivassilou as being associated with a Non-Celiac Gluten Sensitivity. While those who carry HLA DQ1 rarely show villous atrophy, it does happen on occasion. Since about 1-2% of biopsy proven celiacs carry the HLA DQ1 gene, it may be questionable practice torule out Celiac Disease solely by the absence of the main genes (HLA DQ2 or HLA DQ8).

While HLA DQ1 is not recognized by most celiac experts as being associated with celiac disease, Dr. Hadjivassilou has found HLA DQ1 in about 20% of his gluten sensitive (antigliadin positive) neurological patients. The remaining 80% have either HLA DQ2 or HLA DQ8 consistent with the celiac population.

Because Enterolab is the only lab I know of which also looks for the genetic types associated with a non-celiac gluten sensitivity (like HLA DQ1), I recommend this lab for genetic testing. This is important because~

From "Gluten sensitivitiy as a neurological Illness" by M Hadjivassiliou, R A Grunewald, G A B Davies-Jones:
"Within the group of patients with neurological disease and gluten sensitivity (defined by the presence of anti-gliadin antibodies) we have found a similar HLA association to that seen in patients with CD: 70% of patients have the HLA DQ2 (30% in the general population), 9% have the HLA DQ8, and the remainder have HLA DQ1. The finding of an additional HLA marker (DQ1) seen in the remaining 20% of our patients may represent an important difference between the genetic susceptibility of patients with neurological presentation to those with gastrointestinal presentation within the range of gluten sensitivity."

It's week 3 on the gf diet, and I can report that the arthritis pain is almost gone, and I haven't had any problems with the peripheral neuropathy, either! I feel so much better!
7 Responses
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Avatar universal
I am being tested for the DQ alleles as well. If they come up negative, does that definitively mean I cannot have celiacs or even a gluten sensitivity? All other tests I've had were negative at this point.
Helpful - 0
Avatar universal
The best thing to do if you're having symptoms consistent with gluten issues, would be to go on a gluten-free -exclude wheat, rye and barley - diet.

Having the presence of the genes does not automatically mean a person has gluten if those genes are inactive. However, once those genes 'turn on,' gluten problems follow.
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Avatar universal
Hey.  I noticed this was posted a while back. But I just got my results from entrolab and I have the same genes as you. 1 gluten Sensitivity and 1 celiac. What should I do.
Helpful - 0
Avatar universal
The haplotypes that your seeing are very prevalent in celiac disease in both Europe and in South America. See: http://www.clinchem.org/cgi/content/full/43/11/2204

If you type into google 'DQA1*0501 and DQB1*0201 genes in celiac disease' you're going to come up with articles that state that both are very involved in celiac. They may not be the prevelant subtypes, but?

Your son should be on a gluten-free diet.
Helpful - 0
Avatar universal
My son tested negative for DQ2 and DQ8 genes yet tested positive for DQA1*0501 and DQB1*0201.  Do you or anyone else knows what this means?  He is fine after eating gluten now but last Feb. he started vomiting for no apparant reason and did not stop until August.  A biopsy resulted in some blunted villi and a diagnosis of Celiac Disease.  I feel that he just had a intestional virus and that he is slowly recovering.  We had him gluten free for a month and then got the first of the genetic results that were negative.  The doctor said that he could go back on a  regular diet from July to Sept which he gained 2.2 pounds and slowly stopped vomiting, became back to his regular self sleep wise and social wise.  Now we just had repeat biopsy and the blunted villi were still present so we were told to go back on a GFD.  He has been on it for 3 weeks now but has cheated 2 or 3 times with no problems.  He never had diarrhea or failure to thrive.  I just wish someone could tell me 100 percent if he has celiac or not so we could continue with our normal lives.
Helpful - 0
Avatar universal
Yes, it's nice to finally diminish the misery!
I've noticed when I consume dairy of any kind I get a headache and my stomach starts acting up again for a few days. So I will be going GF/CF. Glad your husband is feeling better.
Helpful - 0
Avatar universal
Glad to hear it! It's always nice when you can finally isolate the problem and diminish the misery, isn't it?

Becareful of the casein in your diet, too. You're at the high end of 'normal.' My husband was there and he's had to go from strictly GG to GF/CF. It made a huge change in the way he felt. All the remainder of the things he couldn't clear up, slowly disappeared.
Helpful - 0

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