[Diagnostic problems in adult celiac disease]

Area of Science:

• Gastroenterology
• Immunology
• Genetics

Context:

• Celiac disease (CD) is an immune-mediated enteropathy triggered by gluten in genetically susceptible individuals.
• Adult-onset CD diagnosis can be challenging due to diverse clinical presentations.

Purpose:

• To detail the clinical features, associated conditions, and serological markers of adult celiac disease.
• To investigate the diagnostic utility of serology in relation to clinical and histological findings.

Summary:

• Retrospective analysis of 31 adult CD patients revealed atypical presentations in nearly 50%, with 33% lacking gastrointestinal symptoms.
• Typical CD manifestations correlated with Marsh stage III b-c villous atrophy (87%). Anti-endomysial antibodies (AEm) were present in 70%, predominantly in women, and associated with Marsh stage III b-c (84%).
• HLA-DQ2 positivity was found in 68.4% of patients. AEm and HLA-DQ2 were less frequent than reported in other studies, suggesting potential associations with clinical and histological findings.

Impact:

• Highlights the variability in adult celiac disease presentation, emphasizing the need for broader diagnostic considerations beyond typical GI symptoms.
• Suggests that genetic factors (HLA-DQ2) and specific antibodies (AEm) may aid in diagnosing celiac disease, particularly when correlated with histological findings.
• Underscores the importance of integrating clinical, serological, and genetic data for accurate celiac disease diagnosis and understanding its varied expression.