Diagnostic Challenges of Celiac Disease
Celiac Disease and HLA Risk

June 2010
The theoretical application of HLA typing to celiac disease is as follows. The large green circle illustrates the genetic type of the general population. The yellow circle illustrates those individuals who carry the gene pairs that can encode for the HLA type that makes celiac disease possible. But only the small red dot illustrates those who actually have celiac disease. The strength of this approach is really in its negative predictive value in those who do not reside within the yellow circle. So, those in the green area who do not have these gene pairs are very unlikely to ever get celiac disease. Whereas those contained within the yellow circle, including the red dot, have the genetic susceptibility for celiac disease, but as one can, see most individuals who carry the genes will not get celiac disease.
Celiac Disease and HLA Risk |
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?


