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Current guidelines do not identify all undiagnosed celiac disease cases
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Most undiagnosed cases of celiac disease are not identified by the current recommended guidelines, according to recent study findings published in Pediatrics.
Anna Rosén, MD, PhD, of the department of public health and clinical medicine of Umea University, Sweden, and colleagues conducted a questionnaire-based study on 7,567 children aged 12 years and their parents to determine the frequency of symptoms and associated conditions among screening-detected celiac disease (CD) cases and children without CD.
Blood samples were taken from 7,208 participants without previously detected CD and 2.1% had confirmed CD.
Overall, 7,054 participants without previously known CD completed the questionnaires. Parents completed questionnaires for 6,294 children without previously known CD.
The odds of having undiagnosed CD were not increased by having a symptom or symptoms. However, odds of undiagnosed CD increased in children with either thyroid disease or trisomy 21. Family history of CD did not lead to statistically significant increased odds of a participant having undiagnosed CD.
Forty-one percent of participants with previously diagnosed CD and questionnaire data available had any CD-associated condition. Only 10% of screening-detected participants and 6% of non-CD participants had any CD-associated condition.
One or more of the listed symptoms were reported by 33% of participants without a previous CD diagnosis.
“The prevalence of undiagnosed CD in the general population is as high among children with CD-associated symptoms as it is among asymptomatic children,” the researchers wrote. “Our questionnaire-based case-finding strategy for finding undiagnosed CD, on the basis of CD-associated symptoms and conditions, was not efficient when applied to the general population. However, CD may present with a large variety of symptoms, and there might be other questionnaire-based approaches that could be more precise in finding undiagnosed cases.”
In an accompanying editorial, Susan S. Baker, MD, PhD, wrote that the study findings question the validity of relying on symptoms for screening children.
“This carefully designed and executed study raises important questions, suggests recommendations for screening of CD be revisited, and further suggests that care be taken in prescribing a gluten-free diet when a diagnosis of CD has not been made,” she wrote.
For more information:
Baker SS. Pediatrics. 2014;doi:10.1542/peds.2013-3631.
Rosen A. Pediatrics. 2014;doi:10.1542/peds.2012-3765.
Disclosure: The study was funded in part by the County Council and Västerbotton, the European Union-supported project, the Swedish Research Council; the Swedish Research Council for Environment, Agricultural Sciences, and Spatial Planning, and the Swedish Council for Working Life and Social Research.