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BACKGROUNDS. Celiac disease is a systemic, immune-mediated disease, triggered by the ingestion of gluten-containing grains in susceptible individuals. Recently there have been changes in diagnosis of celiac disease, mainly due to the discovery of serological tests. Epidemiological studies, done so far in northeastern Slovenia, showed that cumulative incidence was rising and typical presentation was dominant.

METHODS. The inclusion criteria were: born in northeastern Slovenia between the years 1999 and 2009, diagnosis of celiac disease between 1999 and 2009, clinical features of celiac disease, presence of serological markers, intestinal biopsy and typical histological appearance of the jejunal mucosa. We performed a retrospective collection of clinical data for each patient. The cumulative incidence for each birth cohort was calculated. Serological markers (anti-endomisium antibodies and anti-transglutaminase antibodies) were determined in all patients, as was the presence of the human leukocyte antigen DQ2 or human leukocyte antigen DQ8. Intestinal biopsy was performed and the degree of villous atrophy determined using descriptive classification.

RESULTS. The study included 72 patients. All of our patients fulfilled the majority of diagnostic criteria. All our patients carried one of the human leukocyte antigen DQ risk alleles. Cumulative incidence from 1999 to 2004 is increasing and from 2004 onwards cumulative incidence stabilize. Typical clinical presentation of celiac disease is dominant.

CONCLUSIONS. Cumulative incidence of celiac disease in northeastern Slovenia has stabilized. Typical clinical presentation with chronic diarrhea, abdominal distention and failure to thrive is dominant. Results of serologic tests showed that sensitivity of anti-endomisium antibodies serologic tests is lower in patients that had minor lesion of intestinal mucosa at biopsy. Genetic tests showed that most of our patients carried the human leukocyte antigen DQ2 allele.