Optimizing the Diagnosis of Celiac Disease

Michelle Shui Yee Lau; David S. Sanders


Curr Opin Gastroenterol. 2017;33(1):173-180. 

In This Article

Abstract and Introduction


Purpose of review The diagnostic approach in celiac disease is continuously evolving as our understanding of its pathophysiology improves. This review aims to provide a summary of contemporary work that supports optimization of the diagnosis of this common yet underdiagnosed condition.

Recent findings The recently updated National Institute of Clinical Excellence and European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines and the contentious biopsy-free diagnostic approach will be discussed. We will review the evidence advocating optimal biopsy techniques such as single bite biopsy and controversial bulb biopsy sampling to increase diagnostic yield. Recent data providing phenotypical characterization and clinical outcomes of celiac subtypes such as potential celiac disease, seronegative celiac disease and ultrashort celiac disease will be covered. We will present emerging evidence on novel case finding strategies with point of care tests. Promising novel markers for celiac disease such as serum intestinal fatty acid binding protein and in-vitro gluten challenge will be included.

Summary Recent work has demonstrated the clinical significance of the celiac disease subtypes, emphasizing the importance of careful diagnosis and recognition. There is a move toward a less invasive and perhaps more cost-effective diagnostic approach in celiac disease, but duodenal biopsy remains the gold standard at present for all adults and the majority of pediatric patients.


Celiac disease is a common yet underdiagnosed immune-mediated small intestinal enteropathy triggered by gluten in genetically susceptible individuals, with an approximately 1% prevalence in the United States and beyond.[1–3] A recent meta-analysis found a celiac disease seroprevalence of 1.6% in Asia (Iran, Turkey, Israel and India).[4] Similar figures are observed in population screening studies in Argentina (0.95% biopsy-proven celiac disease),[5] Malaysia (1.25% seroprevalence)[6] and Saudi Arabia (1% biopsy-proven celiac disease).[7] However, epidemiological studies found that up to 75% of patients are unrecognized,[8,9] leading to a poorer quality of life[10] and complications such as malnutrition, osteoporosis and small bowel lymphoma. Continuous efforts are being made to improve the detection of celiac disease. This review provides a critical summary of recent and clinically relevant developments in the diagnosis of celiac disease.