Diagnostic Challenges of Celiac Disease

Patient Presenting on Gluten-free Diet

June 2010

What about the patient who presents on a gluten-free diet? A 25-year-old, male patient with chronic fatigue, bloating, and abdominal pain, reads an article about celiac disease. He starts on the gluten-free diet and feels better immediately. Six-months later he presents to your office for a diagnosis.

The next logical step could be one of these:
1. Tell him to continue the gluten-free diet;
2. Start a gluten challenge and biopsy him after 2 days;
3. Order a tissue transglutaminase IgA IFA test; or
4. Do HLA typing for celiac genes.

Well, we have several choices. In this case, the HLA typing may be a worthy choice. So let’s consider these. Should he stay on a gluten-free diet? Well, he is obviously not happy on a gluten-free diet. A gluten challenge is a very reasonable and standard option; however, biopsying after 2 days is not long enough to generate enough pathologic damage to be certain of the diagnosis and a much more prolonged challenge is usually necessary. A TTg-IgA test is typically not accurate in patients who have been on a gluten-free diet for as long as he has. However, genetic testing for celiac susceptibility genes does not change with introduction of a gluten-free diet.

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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?