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Review
. 2015 Jun 16;3(2):86-101.
doi: 10.3390/diseases3020086.

Celiac Disease: Diagnostic Standards and Dilemmas

Dharmesh H Kaswala  1 , Gopal Veeraraghavan  2 , Ciaran P Kelly  3 , Daniel A Leffler  4
Affiliations
Review

Celiac Disease: Diagnostic Standards and Dilemmas

Dharmesh H Kaswala et al. Diseases. .

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.

Keywords: celiac disease; diagnosis; serology.

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Conflict of interest statement

Dharmesh Kaswala and Gopal Veeraraghavan: None.

Ciaran Kelly: Consultant and scientific advisor related to Celiac disease for Alba, Alvine, Immunosan T and Pfizer.

Daniel Leffler: Consultant for/research support from: Alba Therapeutics, Alvine Pharmaceuticals, INOVA diagnostics, Genzyme, Coronado Biosciences, Pfizer, GI Supply.

Figures

Figure 1
Figure 1
Celiac disease (CD) diagnostic algorithm. DGP: deamidated gliadin peptide; HLA: human leukocyte antigen; Ig: immunoglobulin; TTGA: tissue transglutaminase antibody [7]. Reproduced with permission from Kelly C.P. [7], (ACG clinical guidelines: Diagnosis and management of celiac disease-3).
Figure 2
Figure 2
Classical scalloping of duodenal mucosa seen in Celiac disease at endoscopy.
Figure 3
Figure 3
Modified Gluten Challenge Algorithm [68]; Reproduced with permission from Leffler D.A. and Kelly C.P. (Kinetics of the histological, serological and symptomatic responses to gluten challenge in adults with coeliac disease. Gut 2012).
See this image and copyright information in PMC

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