Celiac disease: advances in diagnosis

ABSTRACT

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.

KEYWORDS:

• Celiac disease
• gluten sensitivity
• small intestinal biopsy
• tissue transglutaminase
• deamidated gliadin
• HLA-DQ2/DQ8

Financial & competing interests disclosure

JA Murray has received grant support from Alba Therapeutics and Alvine Pharmaceutical Inc.; he has served on the advisory board for Alvine Pharmaceuticals Inc.; and has acted as a consultant for AMAG Pharmaceuticals, Entera Health Inc., Sonomaceuticals LLC, BioLine Rx, GlaxoSmithKline (GSK), Genentech, and Glenmark. JA Murray also holds patents with Miomics and royalties with Torax. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.