Many children at risk of coeliac disease remain undiagnosed

Undiagnosed coeliac disease is rampant in children whose relatives have it.

Nicole Berkhout and her 10 year-old niece Dali Sanderson are both coeliac and have other relatives with the genes. Picture: Renae Droop/RDW Photography

Children are 10 times more likely to be diagnosed with coeliac disease if a close relative has the auto-immune disorder but many remain undiagnosed, potentially leading to long-term health issues.

New Australian research, published in The Medical Journal of Australia on Monday, highlights the importance of testing for the disease in high-risk children as young as two, even if they don’t show symptoms.

Researchers from Queensland’s Wesley Research Institute tested 202 first-degree relatives including children, siblings, or parents of people with the disease.

They found 14 per cent of children had undiagnosed coeliac disease, 10 times the national prevalence rate of 1.4 per cent.

“Most people are completely unaware of the lifelong impacts this disease can have on a person’s overall health, so it is critical that we identify at-risk children early,” said gastroenterologist James Daveson, the lead researcher.

Coeliac disease is a condition where the digestive system cannot properly process gluten – found in grains such as wheat, barley and oats. These long-term health issues include short stature, chronic fatigue and lack of focus, low iron, anaemia, tooth decay and malabsorption.

“By the time they get to us as teenagers, they are not infrequently osteoporotic and have had multiple fractures,” Dr Daveson said. “If you identify and manage these kids early on, you negate these negative long-term health outcomes.”

Dr Daveson is calling for all children with coeliac relatives to be blood-tested.

Nicole Berkhout was 43-year-old when she found out she was coeliac.

She made the discovery only after her niece, then aged about three, was diagnosed with the disorder.

“When my brother found out his daughter was coeliac, he told me the specialist said it’s genetic … ‘you and the kids should get tested’,” Ms Berkhout said.

“I thought I was fine but my test came back off the charts. I guess you don’t know what’s not normal. I thought feeling bloated, fatigue, eczema, all that stuff, just happens in life.”

Ms Berkhout’s sister, then in her late 30s, also tested positive for coeliac disease.

“The discovery was life-changing for me. My symptoms disappeared,” she said. “My energy levels came back … I don’t get the same muscle fatigue or upset stomachs.”

Ms Berkhout wonders how her teenage years might have been different had she known she was coeliac, or whether she might have prevented health issues such as gut cancers or eczema.

“I can remember doing lots of sports. When I was training for competitions, I was put on a high-carb diet – this was the ’80s. I remember that competition as clear as day, my body just wouldn’t work.”