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Many people with coeliac disease are thought to be undiagnosed or diagnosed late, especially children. It can be a challenging disease to detect, which means researchers are looking for innovative ways of picking it up.

In this study, researchers in Brisbane wanted to determine how prevalent coeliac disease was among direct relatives – children, siblings and parents – of people who were diagnosed as having coeliac disease. These relatives underwent genetic tests to detect if they had particular genes relating to coeliac disease risk, plus evaluated their level of antibodies associated with the disease. In all, 202 relatives were screened between 2017 and 2019 (81 males and 121 females, with a median age of 37).

The study found that 86% of relatives had genetic mutations that made them susceptible to coeliac disease. 16 people (mainly children) had positive serology results and after further testing, coeliac disease was confirmed in seven children and two adults by means of small bowel biopsy. This meant that among relatives of people with confirmed coeliac disease, the prevalence of coeliac disease was 11 per cent among child relatives and 1.4 per cent among adult relatives.

Authors say these findings show the importance of active case finding among first-degree relatives of people diagnosed with coeliac disease and that there is likely a delay in diagnosis of this disease given the difference in prevalence detected between children and adults. The high prevalence observed in children, but not adults, may suggest a delay in diagnosis in Australia. This study is the first in Australia to estimate coeliac disease prevalence in first-degree relatives through active case finding, highlighting the need for increased awareness and testing among at-risk groups.


More information

Undiagnosed coeliac disease identified by active case finding in first degree relatives of people with coeliac disease in Australia: a prospective observational study: Medical Journal of Australia

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