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.
- 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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