Coeliac screening needed as standard for family members

13 Oct 2023

Researchers from The University of Queensland and The Wesley Research Institute have found a high number of at-risk children are living with undiagnosed coeliac disease.

Dr James Daveson from UQ’s Faculty of Medicine was involved in Australia’s first study on the prevalence of coeliac disease among close relatives of people with the same disease.

Dr Daveson said the study found 14 per cent of genetically at-risk children were undiagnosed when they were tested for Coeliac disease, compared to the expected national prevalence rate of 1.4 per cent.

“This likely reflects the fact that in Australia we underdiagnose people with Coeliac disease,” Dr Daveson said.

Coeliac disease is a lifelong, inflammatory disease triggered by the body reacting abnormally to gluten in the diet.

Swift diagnosis and treatment can reduce the impact on people’s lives, but many with the disorder have not been tested or diagnosed despite previous family history being the strongest risk factor.

“We screened 202 people who were first degree relatives of someone with coeliac disease, including 62 children and 140 adults,” Dr Daveson said.

“Of the 202 people with first-degree relatives, 173 had genetic variations putting them at risk of developing coeliac disease, in whom, further blood tests and small bowel biopsies were then collected to confirm whether individuals had the disease.

“Of the children tested, 11 per cent had coeliac disease confirmed by biopsy, while of the adults, 1.4 per cent had biopsy-confirmed disease.

“The 1.4 per cent prevalence among adults is in line with global rates, but it’s possible that the higher prevalence found in children reflects a delayed diagnosis in Australia.”

Routine screenings or strategies to identify people with a disease early is recommended overseas.

“More research is needed, but these findings support the implementation of screening for first degree relatives of people diagnosed with coeliac disease,” Dr Daveson said.

“By catching coeliac disease early, we can support people to live healthier lives with their diagnosis.”

The research took place at the Wesley Research Institute in Brisbane and was supported by funding from the Institute’s Coeliac Disease and Immune Health Program.

The research is published in the Medical Journal of Australia

Media: UQ Faculty of Medicine,, +61 436 368 746.