[Celiac disease diagnosis in 2008].

Area of Science:

• Gastroenterology
• Immunology
• Genetics

Context:

• Widespread use of sensitive serological tests since the 1990s has changed celiac disease (CD) diagnosis.
• Active CD is now recognized as only a small fraction of all cases.
• Screening for CD is common in at-risk individuals, including siblings of diagnosed patients and those with conditions like insulin-dependent diabetes.

Purpose:

• To describe the evolution of celiac disease diagnosis.
• To highlight the role of modern serological tests and HLA typing.
• To explain the classification and management of diagnosed celiac disease.

Summary:

• Highly sensitive and specific serological tests (IgA anti-endomysium, anti-tissue transglutaminase antibodies) with >90% sensitivity and specificity are now primary diagnostic tools.
• HLA typing can exclude CD in individuals lacking DQ2 or DQ8.
• The intestinal biopsy, while the gold standard, shows less severe villous atrophy in milder CD cases. Diagnosis relies on integrating clinical, biological, and histological findings.
• Celiac disease is classified as active, silent (positive serology with villous atrophy), or latent (positive serology with normal mucosa), guiding therapeutic decisions.

Impact:

• Shift towards earlier and milder celiac disease detection.
• Improved diagnostic accuracy through combined clinical, serological, and histological data.
• Facilitation of timely therapeutic interventions based on disease classification.