How to diagnose coeliac disease in 2026?

Area of Science:

• Gastroenterology
• Immunology
• Genetics

Background:

• Coeliac disease (CD) is an immune-mediated enteropathy triggered by gluten in genetically predisposed individuals (HLA-DQ2/DQ8).
• Diagnosis traditionally relies on serology (IgA anti-tissue transglutaminase) and duodenal biopsy, though histology has limitations like patchy involvement.

Purpose of the Study:

• To review diagnostic approaches for coeliac disease, including traditional and emerging biopsy-sparing methods.
• To discuss the role of genetics, serology, and gluten challenges in diagnosing CD, especially in adults and those on a gluten-free diet.

Main Methods:

• Review of current diagnostic guidelines and emerging research in coeliac disease detection.
• Integration of serological, genetic (HLA genotyping), histological, and clinical data for diagnosis.

Main Results:

• Duodenal biopsy remains the gold standard but has limitations; biopsy-sparing approaches are under investigation.
• Mass screening shows potential cost-effectiveness, but evidence is still developing.
• Gluten challenge protocols with HLA genotyping improve accuracy for patients on a gluten-free diet.

Conclusions:

• Evolving evidence supports a tailored, less invasive diagnostic approach for coeliac disease.
• Integration of serology, genetics, histology, and novel diagnostics can improve early detection and management.
• Proactive screening is important due to CD's association with other autoimmune conditions.