Izhodišča: Celiakija je imunsko pogojena bolezen tankega črevesa, ki nastane kot posledica uživanja glutena pri genetsko predisponiranih osebah. Bolezen prizadene okoli 1 % prebivalstva in ni le bolezen otroške dobe, saj v različnih kliničnih oblikah prizadene ljudi vseh starosti. Diagnostika bolezni temelji na merilih, ki jih je sprejelo in nato revidiralo Evropsko združenje za pediatrično gastroenterologijo, hepatologijo in prehrano (ESPGHAN). Kot zlati standard predvidevajo dokaz reverzibilne okvare sluznice tankega črevesa. Revidirana merila predvidevajo manjše število biopsij za postavitev dokončne diagnoze, kar je predvsem posledica uporabe seroloških testov. V diagnostiki celiakije igrajo pomembno vlogo tudi genetske preiskave, predvsem določanje prisotnosti zapisa za HLA-DQ2 in HLA-DQ8. Najnovejši testi, ki omogočajo določanje prisotnosti protiteles proti tkivni transglutaminazi v kapilarni krvi ob obisku bolnika v ambulanti, bodo verjetno zelo olajšali diagnostiko bolezni. Nova dognanja, ki kažejo, da gre pri celiakiji za sistemski patološki imunski odgovor na gluten pri genetsko predisponiranih osebah, pa že kažejo na to, da v prihodnje biopsija sluznice tankega črevesa morda ne bo več imela primarne vloge.
Zaključki: Sodobna diagnostika celiakije temelji na uporabi bolezensko specifičnih seroloških testov in dokazu povratne okvare sluznice tankega črevesa. V diagnostiki se v zadnjem času uspešno uporabljajo tudi genetski testi in novi hitri serološki testi. Intenzivne raziskave patogeneze in klinične slike celiakije pa bodo pokazale, ali bo v prihodnje moč postaviti zanesljivo diagnozo bolezni tudi brez biopsije sluznice tankega črevesa.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
