Abstract

Background: Celiac disease is an enteropathy characterized by gluten sensitivity and broad clinical aspect. Has a multifactorial cause and depends on genetic, immunological and environmental factors for its development. The genetic influence is given mostly by the human leukocyte antigens HLA DQ2 and DQ8. Aim: To evaluate the prevalence of human leukocyte antigens DQ2 and DQ8 in three different groups: patients with celiac disease, first-degree relatives and the general population. Method: Retrospective analysis that evaluated serologic and endoscopic data of 74 patients with celiac disease and 109 non-celiac, which were subdivided into two subgroups: non-celiac who had first-degree relatives with celiac and non-celiac who did not. All patients underwent laboratory examination for screening genetic sensitivity given by HLA DQ2 and HLA DQ8 by. Results: The presence of HLA DQ2 and DQ8 was identified in 98,4% of 74 celiac patients, of which 79,7% had only HLA DQ2; 8,1% had only HLA DQ8 and 10,8% had both antigens histocompatibility. In the group of relatives of celiac patients, were included 29 patients; among them, 89,6% had HLA DQ2 and/or DQ8; 76% only the HLA DQ2, 10,3% only HLA DQ8 and 3,4% presented both human leukocyte antigens (HLA). Conclusion: HLA DQ2/DQ8 was present in 98,4% of celiac patients; 89,6% relatives of celiac family and in 55,4% of people from the general population without family celiac.

Highlights

  • Known as “gluten intolerance”, “non-tropical sprue” or “gluten-induced enteropathy,” celiac disease (CD) is an autoimmune enteropathy framed within disabsortive syndromes

  • The CD basically depends on three main aspects to become active: the ingestion of gluten - etiologic agent of the disease, dysfunction of intestinal mucosal barrier and genetic predisposition

  • The gliadin meets the transglutaminase tissue (TGt) in the intestinal lumen, forming a macromolecular complex which can be recognized as antigens by antigen presenting cells via allele of the major histocompatibility complex class II, namely HLADQ2 and human leukocyte antigens (HLA)-DQ8

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Summary

Introduction

Known as “gluten intolerance”, “non-tropical sprue” or “gluten-induced enteropathy,” celiac disease (CD) is an autoimmune enteropathy framed within disabsortive syndromes. The disease involves various mechanisms in its pathogenesis and has a range of clinical presentation, so it is necessary to maintain a low threshold for diagnostic suspicion. Despite these features, the CD basically depends on three main aspects to become active: the ingestion of gluten - etiologic agent of the disease -, dysfunction of intestinal mucosal barrier and genetic predisposition (holotypes HLA DQ2 / DQ8). Among its components, the main one is gliadin, which is the toxic fraction and is directly involved in the pathogenesis of CD. Based on the factors that trigger the disease previously described, and knowing the ABCD Arq Bras Cir Dig 2015;28(3):[183-185]

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