Sandbox:Lina Alatta

Gastroenterology

Celiac Disease

Overview

Celiac disease is an immune-mediated sensitivity to gluten in genetically suspected individuals that mainly affects the small intestinal mucosa.

Historical Perspectives

Celiac disease was first discovered by Dutch pediatricians in late 1940, as a disease caused by gluten. After that, main changes were done in realizing the disease pathogenesis, diagnosis and treatment.

Classification

There is no classification system established for Celiac disease.

Pathophysiology

The exact pathogenesis of celiac disease is not fully understood. It is thought that celiac disease is produced by combination of genetics, environmental and immunological triggers.

Genetics Factors

Celiac disease has a known genetic factor as evidenced by its increased familial recurrence (~ 10–15%) and the common concordance of the disease in monozygotic twins (75–80%). The role of HLA class II heterodimers, chiefly DQ2 and DQ8, in the genetics of celiac disease. HLA-DQ2 homozygosis has an increased risk (25–30%) of acquiring early-onset CD in infants with a first-degree family member affected by the disease. Since HLA-DQ2/HLA-DQ8 is more common (25–35%), and only 3% of these HLA-compatible persons will be diagnosed with celiac disease, it is not surprising that genome-wide association studies have discovered greater than 100 non-HLA-related genes linked to celiac disease. The significant of these additional genes in proving genetic factor for celiac disease is rather limited, but they may lead to the discovery of main pathways strongly involved in disease pathogenesis.