Diagnostic Challenges of Celiac Disease

Case 1: Negative Serology for Celiac Disease

June 2010

The first case. A 45-year-old female patient with a 6-month history of diarrhea and bloating, is found to be anemic. She has a family history of a brother who has dermatitis herpetiformis. A tissue transglutaminase IgA test is performed and is negative. An endoscopy is performed and an endoscopic biopsy shows partial villous atrophy.

The next logical step is one of the following:
1. Treat her for bacterial overgrowth;
2. Give her iron and loperamide, an antidiarrheal agent;
3. Order an endomysial IgA, indirect immunofluorescence assay (IFA) test; or
4. Measure total IgA levels.

The correct answer in this case would be to measure total IgA levels.

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Jump to section:

• Introduction
• Case 1: Negative Serology for Celiac Disease
• Limitations of Serology
• Case 2: Symptomatic Malabsorption
• Biopsy First?
• Comparison of Serological Tests
• Comparison of Serological Tests
• Marsh Classification
• Autoimmune Enteropathy²
• Autoimmune Enteropathy²
• False-Positive Biopsies
• False-Positive Biopsies
• Minimal Disease: Uncertain Histology
• Lymphocytic Duodenosis⁴
• Patient Presenting on Gluten-free Diet
• What About Patients on Gluten-free Diet?
• Gluten Challenge Testing
• Celiac Disease and HLA Risk
• Genetic Tests-Big Limitation⁵
• References
• Questions?