Celiac disease pathophysiology
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
Coeliac disease appears to be polyfactorial, both in that more than one abnormal factor can cause the disease and also more than one factor is necessary for the disease to manifest in a patient.
Most all coeliac patients have abnormal HLA DQ2 allele.[1] However, about 20–30% of people without coeliac disease have inherited an abnormal HLA-DQ2 allele.[2] This suggests additional factors are needed for coeliac disease to develop. Furthermore, about 5% of those people who do develop coeliac disease do not have the DQ2 gene.[1]
The HLA-DQ2 allele shows incomplete penetrance, as the gene alleles associated with the disease appear in most patients, but are neither present in all cases nor sufficient by themselves cause the disease.
Associated Conditions
- Insulin dependent diabetes mellitus (IDDM)
- Sjogren’s syndrome
- Thyroid disease
- Dermatitis herpetiformis – extraintestinal manifestation