Celiac disease, which is typically treated by lifelong adherence to a gluten-free diet, is far more common than health experts have previously believed, a new study suggests.
Australian researchers who developed a new genetic approach to detecting the immune disorder suggest the disease strikes at least one in 60 women and one in 80 men. Previous estimates had put that figure at about one in 100.
What's more the study, published in the journal BMC Medicine, is the first to reveal that genetic risk factors for developing the disease are identifiable in more than half of the population, although it's not clear why the disease develops in only some people.
Lead researcher Jason Tye-Din, M.D., from the immunology division at the Walter and Eliza Hall Institute in Australia, noted celiac disease is currently diagnosed through a blood test for antibodies that signal the condition.
But the new genetic diagnostic approach developed by Dr. Tye-Din and colleagues, combined with antibody testing, would increase the accuracy of testing — helping patients with the condition know their status and avoid the medically unnecessary use of a restrictive gluten-free diet in those without it.
It would also cut medical costs for invasive bowel biopsies now performed to confirm the disease.
"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 celiac disease."
Celiac disease is caused by an inappropriate immune response to dietary gluten in wheat, rye, barley, and oats. When gluten is consumed, it can cause fatigue, iron deficiency, osteoporosis, rash, headaches, and various digestive symptoms. Celiac disease damages the lining of the small intestine and can lead to significant medical complications such as autoimmune disease, infertility, liver failure, and cancer.
For the study, Dr. Tye-Din and colleagues tracked more than 2,500 Australians who underwent 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 celiac disease, with women more at risk than men.
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.
"It is concerning that a significant number of people in the community with celiac disease have not been diagnosed," he said.
"Accurate and timely diagnosis is important for the health of patients with celiac 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."
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