Diagnostic Challenges of Celiac Disease

Biopsy First?

June 2010

In this case, either the Comprehensive Cascade or the Serology Cascade provide logical approaches to the further evaluation of this patient.

This illustrates the circumstance where a patient has had a presumptive diagnosis of celiac disease made by biopsy first, without prior serologic testing. In this case, the patient had a duodenal biopsy with villous atrophy. The next most important stage would be to undertake testing for serology to provide important supportive evidence for the diagnosis of celiac disease. Again, we deal with the issue of, is this patient IgA deficient? And, the primary test in most circumstances is the tissue transglutaminase IgA level. It is important to recognize that a proportion of patients who have an abnormal biopsy do not have celiac disease, but rather have some other cause. Combining serologic testing, often with the HLA celiac-specific susceptibility testing, can be a very powerful tool for discriminating between celiac disease and those who do not have celiac disease in this circumstance.

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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?