How is Celiac Disease Diagnosed?
Celiac disease is primarily diagnosed through a combination of serological tests and a small intestine biopsy. Initial assessments typically begin with blood tests that measure specific antibodies, such as anti-tissue transglutaminase (tTG) antibodies and anti-endomysial antibodies (EMA). A positive result may indicate the presence of celiac disease, prompting further evaluation.
Serological Testing
Serological tests are non-invasive and can effectively identify individuals at risk. Patients should continue consuming gluten before testing to ensure accurate results. If levels of these antibodies are significantly elevated, the doctor may recommend a biopsy.
Small Intestine Biopsy
The definitive diagnosis of celiac disease typically involves an upper endoscopy to obtain tissue samples from the small intestine. The biopsy results will reveal any damage to the villi, small finger-like projections in the intestine that are critical for nutrient absorption. Damage to these villi confirms celiac disease.
Genetic Testing
In some cases, genetic testing for HLA-DQ2 and HLA-DQ8 can also be performed, as these genes are often present in individuals with celiac disease. However, the absence of these genes can rule out the disease but does not confirm it.
Overall, an accurate diagnosis is essential for effective management, as adherence to a strict gluten-free diet is the primary treatment for celiac disease.