Diagnostic Challenges of Celiac Disease

Genetic Tests-Big Limitation⁵

June 2010

So that brings to our notice the big limitation of this type of genetic testing. First of all, having the HLA type does not equal the disease. Most people with the at-risk types will not have celiac disease. Two-thirds of family members of people with celiac disease will carry the at-risk types, but most of these don’t get the disease. Another category of individuals who are at risk for celiac disease are type 1 diabetics, also known as juvenile onset diabetes. And fully 50% of those individuals carry the same HLA type as risk for celiac disease, but only 6% of them will get celiac disease.

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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?