Serological testing for celiac disease in children

Expert Rev Gastroenterol Hepatol. 2025 Jan-Feb;19(2):155-164. doi: 10.1080/17474124.2025.2462245. Epub 2025 Feb 4.

Abstract

Introduction: Celiac disease is one of the most common chronic immune-mediated gastrointestinal conditions, characterized by the presence of disease-specific serum antibodies against self-antigen transglutaminase 2. Even though modern serological assays can identify most untreated celiac disease patients and are also increasingly being used to establish a diagnosis, several challenges are associated with the tests, including a lack of standardization, the variable sensitivity and specificity of commercial assays, and inadequate sensitivity for monitoring adherence to a gluten-free diet.

Areas covered: This narrative review outlines the current use of serological tests in case-finding and screening, as well as in the follow-up of dietary treatment. Additionally, the possible challenges and pitfalls of serological tests, along with future directions, are addressed.

Expert opinion: The excellent accuracy of modern autoantibody tests, especially for greatly elevated levels of transglutaminase 2 antibodies and positive endomysial antibodies, enables using serological testing in establishing a diagnosis. However, better international standardization of the assays is required, the necessity of endomysial antibody testing needs to be further scrutinized, and additional research is needed to improve noninvasive tools for follow-up and to further expand the no-biopsy criteria for celiac disease.

Keywords: Antibodies; diagnosis; follow-up; pediatrics; screening.

Publication types

  • Review

MeSH terms

  • Autoantibodies* / blood
  • Biomarkers / blood
  • Celiac Disease* / blood
  • Celiac Disease* / diagnosis
  • Celiac Disease* / diet therapy
  • Celiac Disease* / immunology
  • Child
  • Diet, Gluten-Free
  • GTP-Binding Proteins / immunology
  • Humans
  • Predictive Value of Tests
  • Prognosis
  • Protein Glutamine gamma Glutamyltransferase 2
  • Serologic Tests* / standards
  • Transglutaminases* / immunology

Substances

  • Transglutaminases
  • Autoantibodies
  • GTP-Binding Proteins
  • Protein Glutamine gamma Glutamyltransferase 2
  • Biomarkers