Australian-first study calls for screening of family members for coeliac disease

Annika Howells
Med J Aust 2023; 219 (6): 1.
Published online: 3 October 2023

An Australian-first study, published in the Medical Journal of Australia, has found significant prevalence of undiagnosed coeliac disease among first degree relatives of people already diagnosed.

The study findings support existing overseas recommendations for screening of first degree relatives for coeliac disease.

Coeliac disease is an autoimmune disorder where the ingestion of gluten in genetically susceptible individuals causes gastrointestinal symptoms.

Delayed diagnosis of coeliac disease can lead to serious health complications such as osteoporosis, infertility, and small bowel cancer.

“We undertook this research to look at the value of finding cases of coeliac disease in people at high risk of coeliac disease in Australia,” lead author Dr James Daveson said.

Researchers at the Wesley Research Institute in Brisbane set out to determine the prevalence of undiagnosed coeliac disease among first degree relatives of people who had been diagnosed.

A total of 202 first degree relatives (children, siblings or parents) of 134 people with coeliac disease were invited to undergo testing for coeliac disease.

Testing included HLA-DQ2/8/7 polymerase chain reaction genotyping for coeliac disease risk alleles and, where possible, small bowel biopsy.

The study found seven of 62 child first degree relatives of people with coeliac disease had biopsy-confirmed disease, yielding an estimated prevalence of 11%.

For those with coeliac disease susceptibility haplotypes, the prevalence was 14%.

Dr Daveson hopes the study will emphasise to health practitioners the importance of family screening for coeliac disease.

“Defining such a high rate of undiagnosed … high risk children with coeliac disease is important for Australian health practitioners,” Dr Daveson said.

“The most important outcome of this study will be if it highlights the need for first degree relatives of people with coeliac disease to be screened for coeliac disease themselves.”

  • Annika Howells



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