Celiac disease: from etiological factors to evolving diagnostic approaches

J Gastroenterol. 2017 Sep;52(9):1001-1012. doi: 10.1007/s00535-017-1357-7. Epub 2017 Jun 19.

Abstract

Celiac disease has advanced from a medical rarity to a highly prevalent disorder. Patients with the disease show varying degrees of chronic inflammation within the small intestine due to an aberrant immune response to the digestion of gliadin found in wheat. As a result, cytokines and antibodies are produced in celiac patients that can be used as specific biomarkers for developing diagnostic tests. This review paper describes celiac disease in terms of its etiological cause, pathological effects, current diagnostic tests based on mucosal biopsy, and the genetic basis for the disease. In addition, it discusses the use of gliadin-induced cytokines, antibodies and autoantibodies as a diagnostic tool for celiac disease. Despite good initial results in terms of sensitivity and specificity, when these immunological tests were used on a large scale, even in combination with genetic testing, the results showed lower predictive value. This review addresses that issue and ends with an outlook on future work required to develop diagnostic tests with greater accuracy in predicting celiac disease in the general public, thus avoiding the need for endoscopy and mucosal biopsy.

Keywords: Autoantibodies; Autoimmunity; Celiac disease; Diagnostics.

Publication types

  • Review

MeSH terms

  • Autoantibodies / immunology
  • Biomarkers / metabolism
  • Biopsy / methods
  • Celiac Disease / diagnosis*
  • Celiac Disease / etiology
  • Celiac Disease / immunology
  • Cytokines / immunology
  • Genetic Testing / methods
  • Gliadin / immunology*
  • Humans
  • Intestine, Small / immunology
  • Intestine, Small / pathology*
  • Predictive Value of Tests
  • Sensitivity and Specificity

Substances

  • Autoantibodies
  • Biomarkers
  • Cytokines
  • Gliadin