Abstract
Celiac Disease (CD) affects at least 1% of the population and evidence suggests that prevalence is increasing. The diagnosis of CD depends on providers being alert to both typical and atypical presentations and those situations in which patients are at high risk for the disease. Because of variable presentation, physicians need to have a low threshold for celiac testing. Robust knowledge of the pathogenesis of this autoimmune disease has served as a catalyst for the development of novel diagnostic tools. Highly sensitive and specific serological assays including Endomysial Antibody (EMA), tissue transglutaminase (tTG), and Deamidated Gliadin Peptide (DGP) have greatly simplified testing for CD and serve as the foundation for celiac diagnosis. In addition, genetic testing for HLA DQ2 and DQ8 has become more widely available and there has been refinement of the gluten challenge for use in diagnostic algorithms. While diagnosis is usually straightforward, in special conditions including IgA deficiency, very young children, discrepant histology and serology, and adoption of a gluten free diet prior to testing, CD can be difficult to diagnose. In this review, we provide an overview of the history and current state of celiac disease diagnosis and provide guidance for evaluation of CD in difficult diagnostic circumstances.
Highlights
Celiac disease (CD) is a chronic immune-mediated enteropathy triggered by exposure to gluten in genetically predisposed individual [1] and is a common autoimmune disorder, affecting ~1% of the population in many regions of the world [2,3]
Diagnosis suggest that serologic tests, either tissue transglutaminase (tTG), Endomysial Antibody (EMA), or Deamidated Gliadin Peptide (DGP) should be done as the first step in diagnosis, followed by small intestinal biopsy is a definitive test to diagnose CD
Recent guidelines for adult CD patients from the World Gastroenterological Association recommend serologic tests including anti-tTG and/or anti-EMA, or anti-DGP for diagnosis and biopsy suggested but not considered mandatory for CD diagnosis which is appropriate for countries with limited healthcare resources [12]
Summary
Celiac disease (CD) is a chronic immune-mediated enteropathy triggered by exposure to gluten in genetically predisposed individual [1] and is a common autoimmune disorder, affecting ~1% of the population in many regions of the world [2,3]. CD is genetically based and prevalence is enriched in patients with family history of CD or a personal history of autoimmune disease, including thyroid, liver, and type 1 diabetes mellitus [4]. Symptoms of undiagnosed CD can range from subclinical to severe malabsorption, known as celiac crisis [5]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
