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Pediatric Celiac Disease: A Review of Diagnostic Testing and Guideline Recommendations
Rachel K Horton1, Catherine E Hagen1, Melissa R Snyder2
1Division of Anatomic Pathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Insights
Celiac disease (CD) historically impacted children, presenting unique diagnostic challenges. Evolving guidelines now incorporate serologic and genetic testing for pediatric CD diagnosis, aiding interpretation for laboratorians.
Area of Science:
- Pediatric Gastroenterology
- Immunology
- Clinical Diagnostics
Background:
- Celiac disease (CD) was initially recognized as a pediatric condition with severe consequences if untreated.
- Current understanding acknowledges CD can manifest at any age, but its pediatric presentation remains critical.
Purpose of the Study:
- To review the evolution of diagnostic guidelines for pediatric celiac disease.
- To compare North American and European guidelines for diagnosing pediatric CD.
- To highlight the role of serologic and genetic testing in pediatric CD diagnosis.
Main Methods:
- Review of small bowel physiology and CD pathogenesis.
- Analysis of varied gastrointestinal and non-gastrointestinal clinical presentations in children.
- Evaluation of diagnostic tests, including serologic and genetic markers, and their performance.
- Comparison of North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) and European Society for Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) guidelines.
Main Results:
- CD diagnosis in children is complicated by diverse clinical manifestations.
- Associated conditions require careful consideration in diagnostic testing, even for asymptomatic children.
- Guidelines differ in their integration of serologic and genetic testing, and biopsy's role in pediatric CD.
Conclusions:
- Understanding the evolution of pediatric CD diagnostic guidelines is crucial for laboratorians.
- Interpretation of serologic and genetic testing in pediatric CD requires specific knowledge.
- Harmonizing diagnostic approaches for pediatric CD is essential for accurate and timely diagnosis.
Background:
The history of how our knowledge of celiac disease (CD) evolved points to its importance in children. Although it is now appreciated that CD can present at any age, it was originally thought to occur only in children and, if untreated, led to serious consequences.
Content:
This review includes a brief discussion of small bowel physiology and the pathogenesis of CD. Next, the varied clinical presentations of CD in children are reviewed, including both gastrointestinal and nongastrointestinal manifestations and how these contribute to the difficulty in diagnosis. In addition, information on specific conditions that are associated with CD is presented, particularly as it applies to diagnostic testing of apparently asymptomatic children. The review will also focus on diagnostic testing available for CD and their general performance characteristics. The review will end with a comparison between published guidelines from the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition for diagnosis of pediatric CD. In particular, this review will focus on differences in the incorporation of serologic and genetic testing, and the role of biopsies in the pediatric population.
Summary:
It is important for laboratorians to understand the evolution of diagnostic guidelines for pediatric CD and how serologic and genetic testing are being applied to and interpreted in this particular patient group.
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