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Problems with diagnosis of Coeliac disease

Since other conditions can closely mimic coeliac disease, the correct diagnosis can only be made by showing that the bowel lining is definitely damaged.  If coeliac disease is suspected, a gluten free diet should not be started, as it will interfere with establishing the correct diagnosis and may delay the diagnosis of another condition with similar symptoms.  Trialing of a gluten free diet does not provide a diagnosis of coeliac disease and subsequent investigations whilst on a gluten free diet will render false negatives.  This includes both the serological testing (blood tests) and the biopsy test.  It is important to discuss the possibility of coeliac disease with a doctor, if anyone has a close relative with the condition or if they have been treated for anaemia on previous occasions.

Diagnosis of Coeliac disease

Diagnosis relies upon proving that the small bowel lining shows the typical abnormality (damage) of coeliac disease (villous attrophy.)  This can only be done by carrying out a small bowel biopsy test (endoscopy), where a special optic fibre instrument is passed through the mouth with direct viewing of progress by the doctor, who is able to pass a small biopsy forcep through the instrument when it reaches the small bowel.  This allows tiny pieces of bowel lining to be removed for microscopic examination.  As a biopsy test is essential for proper diagnosis, referral to either an adult or child specialist gastroenterologist will usually be necessary.

A specific panel of blood tests that measure antibodies to gluten is available as a screening aid in the diagnosis of coeliac disease.  These tests will provide a simple and rapid means to help a doctor decide which family members should have biopsies and may also help reduce the incidence of delayed diagnosis.

The possibility of coeliac disease in other members of the family should be considered.  Suspicious symptoms or signs in any close family member warrant a blood screening test.  For both children and adults, the diagnosis of coeliac disease should be confirmed by repeating the small bowel biopsy 6 to 12 months after starting the gluten free diet.  This is particularly important in young children because other causes of bowl lining damage similar to coeliac disease are possible.

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Coeliac Disease - what is it?
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