Family of people with coeliac disease urged to get tested
Close relatives of people diagnosed with coeliac disease should be screened for the disease themselves, according to an Australia-first study.
The 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 told InSight+.
Dr Daveson is a gastroenterologist with a subspecialty clinical and research interest in coeliac disease and inflammatory bowel disease.
“First degree relatives (siblings, parents and children of people with diagnosed coeliac disease) are the highest-risk group for the development of coeliac disease.”
“We know in Australia we are not good at diagnosing coeliac disease. Although coeliac disease affects 1.4% of Australians, only one in three people with the disease are diagnosed.”
How the study was conducted
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%.
The need for family screening
Dr Daveson told InSight+ he was surprised by the findings.
“The rate of undiagnosed high risk children in Australia with coeliac disease based on these findings is 14%, which is ten times the national prevalence of the disease,” Dr Daveson said.
“Whilst I expected there to be many undiagnosed children in this study (given we know that in Australia we underdiagnose people with this condition), I was surprised by just how high that number was.”
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.”
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