Celiac disease: advances in diagnosis

Celiac disease (CD) is characterized by small intestinal damage, which is mediated by a gluten-driven inflammatory response. Establishing a robust diagnosis is critical for improved quality of life and prevention of co-morbidities, although treatment is associated with a substantial life-long burden of care for patients and families. Unfortunately, CD remains a challenging diagnosis. As awareness of the disease increases, more diagnoses of CD are being made by primary care physicians. In fact, many patients may not present to a gastroenterologist because their symptoms are not clearly linked to a gastrointestinal pathology. Also, many patients are starting a gluten-free diet without prior testing, a circumstance that leads to even more confusion. Lastly, the number of serologic and genetic tests, and the role of endoscopy, can be confusing. The purpose of this review is to examine diagnostic testing strategies, focusing on published guidelines, for the evaluation of patients with suspected CD.