Cleveland Clinic Journal of MedicineCeliac Disease: Who Should I Test, and How?

A Comprehensive Guide for Diagnosis and Management

Celiac disease (CD) is a complex, chronic immune-mediated systemic disorder that affects approximately 1% of the general population. This article provides a comprehensive overview of CD, including its symptoms, testing methods, diagnostic limitations, and long-term management strategies.

Key Points

• CD is triggered by the ingestion of gluten in genetically susceptible individuals, leading to inflammatory injury to the small bowel.
• Symptoms can range from gastrointestinal issues like chronic diarrhea and malabsorption to nonclassical presentations like iron-deficiency anemia and neuropathy.
• The screening test of choice is tissue transglutaminase (TTG) immunoglobulin A (IgA) along with total IgA. Duodenal biopsy is indicated to confirm the diagnosis in patients with positive serology or high clinical suspicion.
• Genetic testing has a high negative predictive value: if a patient is negative for HLA-DQ2/DQ8, then CD can be ruled out, with rare exceptions.
• Treatment involves a lifelong gluten-free diet with regular medical and dietitian follow-up.

According to the Celiac Disease Foundation, it is estimated that 2.5 million Americans are undiagnosed and are at risk for long-term health complications.

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