Modern diagnostic approach to celiac disease

Background: Celiac disease, also known as genetic gluten intolerance is a chronic disease that affects genetically predisposed individuals after the gluten ingestion. It affects about 1 % of population regardless of the age, and can manifest with diverse clinical picture. Diagnosis of celiac disease is based on criteria adopted and later revised by European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN). These criteria consider intestinal biopsy as a gold standard. The number of biopsies has decreased after the introduction of serological tests, which are considered in revised criteria. Genetic tests have also proven to be very valuable in diagnostic procedure, especially HLA-DQ2 and HLA-DQ8 determination. Bedside or point-of-care tests, which enable quick determination of anti tissue transglutaminase antibodies in capillary blood, are a promising new tool. Many reports have shown that adverse immunological response to gluten in genetically predisposed individuals is systemic, which can lead to a decreased importance of intestinal biopsy in future.Conclusions: Diagnosis of celiac disease is based on specific serological markes and reversible mucosal changes of small intestine. Lately developed genetic tests and new quick serological tests are also used. Intensive research focused on pathogenesis and manifestations of celiac disease will show whether definite diagnosis could be confirmed without the use of intestinal biopsy in future.