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New Approach to Celiac Testing Identifies More at Risk

Discussion in 'Other Health News and Research' started by Waverunner, Aug 28, 2013.

  1. Waverunner

    Waverunner Senior Member

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    More people are at risk for celiac disease, than previously thought. It would be nice, to actually understand celiac disease and what causes it.

    http://www.sciencedaily.com/releases/2013/08/130827204046.htm

    Aug. 27, 2013 — Australian researchers have developed a new approach to detecting coeliac disease, revealing this immune disorder is far more common than previously recognised.

    In a study of more than 2500 Victorians the researchers combined traditional antibody testing (measuring the immune response to gluten) with an assessment of specific genetic risk markers. They found more than half of Australians had genetic risk factors for developing coeliac disease. The research is published online today in the journal BMC Medicine.
    Dr Jason Tye-Din from the Immunology division at the Walter and Eliza Hall Institute and Dr Bob Anderson, chief scientific officer at US biotechnology company ImmusanT, worked with Barwon Health, Deakin University, Healthscope Pathology and the University of Queensland Diamantina Institute to develop and trial the new diagnostic approach.
    Dr Tye-Din said the new approach of combining the genetic test with a panel of antibody tests would increase the accuracy of testing, decrease overall medical costs by reducing invasive diagnostic tests, and avoid medically unnecessary use of a gluten-free diet.
    "Currently, bowel biopsies are recommended for anybody with positive antibody tests," he said. "In this study the inclusion of a simple genetic test helped identify a substantial number of people whose antibody tests were falsely positive and who did not actually require a bowel biopsy to test for the possibility of coeliac disease."
    Coeliac disease is caused by an inappropriate immune response to dietary gluten. Gluten can be found in wheat, rye, barley and oats. When gluten is consumed, it can cause a wide range of complaints from chronic tiredness, iron deficiency, osteoporosis, itchy rash, and headaches to various digestive symptoms. Coeliac disease damages the lining of the small intestine and can lead to significant medical complications such as autoimmune disease, infertility, liver failure and cancer. Coeliac disease usually develops in childhood and is life-long, but early diagnosis and treatment can reduce the risk of adverse health complications.
    Dr Tye-Din said the newly developed testing strategy showed coeliac disease potentially affected at least one in 60 Australian women and one in 80 men. Previous estimates had the number of Australians with coeliac disease as no more than one in 100. Although this study is the first to reveal that more than half of Australians have genetic risk factors for developing coeliac disease, it is not yet known why the disease develops in only some people.
    Dr Tye-Din, who is also a gastroenterologist at The Royal Melbourne Hospital, said the findings were surprising and shed new light on the medical burden of coeliac disease in Australia. "It is concerning that a significant number of people in the community with coeliac disease have not been diagnosed," he said. "Accurate and timely diagnosis is important for the health of patients with coeliac disease. Making a diagnosis based on a blood test alone or commencing a gluten-free diet without a confirmatory bowel biopsy is inappropriate and can impose an unnecessary and lifelong treatment.
    "Although small bowel biopsy is needed to confirm coeliac disease it is costly and invasive. Reducing unnecessary procedures is better for patients, eliminating an invasive test, and better for the economy by reducing healthcare costs," Dr Tye-Din said. "This study provides a strategy to improve the diagnosis of coeliac disease in the community by combining the benefits of antibody and genetic testing."
    The research was funded by INOVA Diagnostics Inc, Nexpep Pty. Ltd, the NHMRC, the Victorian Health Promotion Foundation, the Geelong Region Medical Research Foundation, and the Victorian government.
  2. xchocoholic

    xchocoholic Senior Member

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    I wonder what genes they looked for. Based on what I was seeing the last time I looked, they were still
    identifying new ones. I think Cara at theglutenfile has kept up with these on her blog.

    And then there's gluten sensitivity. Dr Oz has a clip on this.

    And then there's all the other reactions people get from gluten without showing
    signs of digestive symptoms or celiac disease. I get insomnia and myoclonus.

    Funny story. I know a celiac who gets ornery from gluten and doesn't get digestive
    symptoms. What's funny about this man is that he laughs when he says he can't tell he's ornery
    until his beloved wife tells him. Then he knows to look at his current foods for gluten. : )
    If only all celiacs or gluten intolerant had such a reliable feedback loop.

    Btw. My celiac dx was made via genetic testing, damage seen 17 months post gf diet, and reaction
    to gf diet. I'm a DQ2 and no one in my family thinks they could possibly have this gene. HA !

    Tc ... X
  3. Waverunner

    Waverunner Senior Member

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    It all seems to be very tricky in medicine. Many things still can't be diagnosed properly.
  4. Sea

    Sea Senior Member

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    I read the whole study and don't really see that they've come up with anything new, just a new strategy for testing. The genetic testing is for DQ2.5, DQ8 and DQ2.2. These are already known to be present in around 99% of people with Celiac. (and somewhere around 50% of the general population, though this study found a higher prevalence of these predisposing genes.)

    At the moment the clinical guidelines are to biopsy if antibody tests are positive. This study argues for genetic testing after a positive antibody test and only proceeding to biopsy in those who have one of the relevant genes, thus saving unnecessary biopsies.

    They believe Celiac can be ruled out if you don't have one of these genes even if the antibody test is positive. They would say that it is a false positive without the relevant genes
    SOC likes this.
  5. Waverunner

    Waverunner Senior Member

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    Sea: Thanks for reading the study. Do you think, that it is possible to have celiac disease without these genes?
  6. Sea

    Sea Senior Member

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    I did some research a while ago when my results showed I had the DQ2.2 which accounts for around 5% of celiac cases. I remember reading somewhere that there are rare cases of celiac without the predisposing genes. While it makes it highly unlikely (less than 1%) I don't think it can be ruled out entirely.

    Interestingly in the study above there were four people with a diagnosis of celiac without the predisposing gene. Three of the four were found to be misdiagnosed (1had Chrohns, I can't remember the other 2). The remaining one of the four declined to be further investigated so we can't know whether that one was a misdiagnosis or celiac without the usual gene profile.
  7. Waverunner

    Waverunner Senior Member

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    Very interesting. Thank you. In any way, the genetic predisposition seems to play a crucial role. Even if there are some cases, that are not caused by these genes, it could still be possible, that they have another predisposing gene, that has not been accounted for. The good news in my eyes is, that if there is a genetic cause for celiac disease, then there also should be a treatment option through gene therapy.
  8. Sea

    Sea Senior Member

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    Maybe, but I think it will be a while away yet. There's obviously more than just predisposing genetics because around 50% of the population carry these genetic versions but only about 1% of people get celiac
  9. Waverunner

    Waverunner Senior Member

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    Wow, that's a lot. But even if 50% carry it and only 1% get celiac disease, we should look at the other side. If 0% of those, who don't have these genes get celiac disease, then it doesn't matter if there are additional circumstances, because if you don't have these genes, you don't get celiac disease, no matter what other triggers there are. Fixing genes will fix the disease. Another approach are vaccines like Nexvax2, which are developed for DQ-2 associated celiac disease.

    http://www.immusant.com/nexvax2/

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