Contemporary celiac disease diagnosis: is a biopsy avoidable?

Area of Science:

• Gastroenterology
• Immunology
• Pediatrics

Background:

• The duodenal biopsy is the traditional gold standard for diagnosing celiac disease.
• Advancements in serological testing prompt interest in non-biopsy diagnostic methods.

Purpose of the Study:

• To review the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines for diagnosing celiac disease without biopsy.
• To evaluate the efficacy and limitations of the revised diagnostic algorithm.

Main Methods:

• Analysis of recent studies evaluating the ESPGHAN guidelines.
• Assessment of diagnostic algorithms involving sequential serological testing and human leukocyte antigen (HLA) genotyping.
• Consideration of patient population selection and serology assay performance.

Main Results:

• Studies largely support accurate celiac disease diagnosis without biopsy in select pediatric populations.
• Success hinges on targeting high-prevalence populations and ensuring robust serology assay performance with appropriate cutoffs.

Conclusions:

• The duodenal biopsy remains the gold standard for most patients.
• Evolving serology and genetic understanding may enable non-biopsy diagnosis for more individuals in the future.