The importance of anti-transglutaminase IgA antibody detection in the diagnosis of celiac disease - case report of an inappropriate diagnostic approach.

Abstract

Celiac disease (CD) is a chronic autoimmune intestinal disease caused by intolerance to gluten [1]. It is characterised by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. The clinical presentations of CD differ depending on the patients’ age. Children younger than 2–3 years of age in most cases suffer from classical CD, whereas older children and adults usually present with atypical forms [2, 3]. Until recently, firm diagnosis of CD has been established based on small intestinal biopsy; however, in 2012 the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) re-edited their diagnostic guidelines for CD in children [1]. According to the new recommendations (Table I), the presence of IgA anti-intestinal transglutaminase 2 antibody (TGA-IgA) is the most sensitive serological marker, and detection of those specific antibodies together with determination of total IgA should be the first tests when CD is suspected in symptomatic children.