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Should all children be screened for coeliac disease?
Italy will begin screening all children for coeliac disease from 2024, but it remains unclear whether Australia should follow suit.
Coeliac disease screening for all children will soon begin in Italy.
Despite being famous for gluten-filled cuisines such as pizza and pasta, Italy is considered one of the most coeliac-friendly countries in the world.
The government provides those who have been diagnosed with food vouchers valued at $230 per month to offset the higher cost of gluten-free foods, and schools, hospitals and public eating establishments are all required to cater for gluten-free diets.
From next year, Italy will also begin screening all children for coeliac disease after a new law was approved by the Italian senate. The details of how the screening program will be rolled-out and at what age children will be tested have not yet been announced; however, it is expected that the entire paediatric population will undergo testing.
Coeliac disease is one of the most common autoimmune conditions with one in 70 Australians affected, yet diagnostic rates remain low as the disease can present in unexpected ways and is often described as a ‘clinical chameleon’.
The only treatment is a life-long gluten-free diet and diagnosis involves serological testing followed by diagnostic small bowel biopsy. The accuracy of both tests relies on patients consuming gluten-containing foods during the diagnostic process as this triggers the autoimmune response that is characteristic of the disease.
Associate Professor Jason Tye-Din, a gastroenterologist and Head of the Coeliac Research Laboratory at The Walter and Eliza Hall Institute, told newsGP the screening program in Italy will provide useful information but that uncertainty remains around population screening programs for the disease.
‘The Italian program underscores the increasing recognition that coeliac disease is an important illness and that early diagnosis is likely to be beneficial, especially for those with symptoms,’ he said.
‘The program will be an important source of data informing on the value of population screening - we will learn about the clinical face and burden of disease, importantly, the impact of diagnosis and treatment on health outcomes and quality of life, and the cost-effectiveness of this approach.
‘I think the success of this program is likely to shape whether other countries adopt similar practices, but I think it won’t be long before other countries consider similar programs.’
Australia has no universal screening program for coeliac disease. Instead, ‘active case finding’ is recommended, despite it being estimated that 80% of Australians with coeliac disease have not yet been diagnosed.
Research recently published in the Medical Journal of Australia shows that 11% of children with first-degree relatives with coeliac disease also have the condition and have not yet been diagnosed.
‘Case finding is still the favoured approach as there remains some questions around the value of population screening,’ Associate Professor Tye-Din said.
‘This includes lack of understanding on the natural history of coeliac disease and if all asymptomatic patients truly benefit from diagnosis.
‘Further, coeliac disease can occur later in life – even in old age – and will be missed by paediatric screening.
‘Finally, important questions around cost-effectiveness remain. The Italian experience will address many of these questions.’
According to current guidelines, serological testing should be offered to all people with a first degree relative with coeliac disease and those with the following symptoms:
- Persistent unexplained abdominal or gastrointestinal symptoms
- Faltering growth in children
- Prolonged fatigue
- Unexpected weight loss
- Severe or persistent mouth ulcers
- Unexplained iron, vitamin B12 or folate deficiency
- Type 1 diabetes
- Autoimmune thyroid disease
- Irritable bowel syndrome
Testing should also be considered for individuals with unexplained subfertility or recurrent miscarriage, dental enamel defects, deranged liver function tests with no clear cause, reduced bone mineral density or unexplained neurological symptoms.
Associate Professor Tye-Din says GPs should be alert to the signs and symptoms that warrant testing and remember that patients should be consuming gluten at the time of testing.
‘Coeliac disease can present very subtly or with mostly extra-intestinal symptoms, for example fatigue, low iron, infertility/miscarriage, [and] mildly abnormal transaminase elevations.
‘In children, [symptoms may include] mood and behavioural issues, [and] a low threshold for testing is indicated.
‘We need to be open to better approaches that improve upon current coeliac disease diagnosis rates. This may one day involve population screening, but improved diagnostic tests and approaches may also help.’
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