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  • Q&A with Australian Health Practitioners

    How is coeliac disease diagnosed?

    Related Topic
    Coeliac Disease & Gluten Intolerance
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    Carolyn Shoemark

    Dietitian

    Carolyn is an Accredited Practising Dietitian and Member of the Dietitian’s Association of Australia (DAA)With 4 years university training and accreditation from DAA, Carolyn is … View Profile

    A biopsy of the small bowel is the only way to diagnose coeliac disease (A biopsy is completed by a gastroscopy). Sometimes blood tests are used to screen for coeliac disease, this is not a diagnostic tool.

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    Melissa Adamski

    Dietitian, Nutritionist

    I am an Accredited Practising Dietitian (APD) with over 15 years’ experience working as a dietitian – advising both businesses and patients. I am founder … View Profile

    A genetic test for the HLA DQ2 and HLA DQ8 genes can help DISCOUNT coeliac disease but NOT diagnose it.

    99.6% of people with coeliac disease will have one or two of either the HLA DQ2 or HLA DQ8 genes. There is a place for genetic testing in helping to screen high risk individuals.

    If you are at high risk of coeliac eg have a first or second degree family member you can have a genetic test (via a buccal swab (cheek swab) or blood test) to see if you have the genes required for developing coeliac disease. 

    If you come back negative then it is considered you cant develop coeliac disease (www.coeliac.org.au and look up diagnosis).

    If you come back positive this does NOT mean you will develop coeliac disease- only that you are at an increased risk of coeliac compared to the general population that do not have these genes. Only 1 in 30 poeple with these genes will go on to develop coeliac disease so you cannot use these results to diagnose coeliac.

    But it may be helpful in some cases to rule the disease out e.g children who do not like blood tests or for people who have already removed gluten from the diet and are reluctant to consume gluten for 6 weeks before an antibody and/or biopsy.

    Melissa Adamski
    Nutted Out Nutrition
    www.nuttedoutnutrition.com.au

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