Clinical presentation and diagnosis of celiac disease

Background. Our understanding of celiac disease, a common gastroenterological illness, has changed fundamentally over the last few decades. Today, the illness is diagnosed more frequently and with greater accuracy, partially due to improved diagnostic tools. Objectives. In this article, the changing presentation of celiac disease and a diagnostic algorithm with reference to common mistakes are described. Materials and methods. For this review concerning presentation and diagnosis of coeliac disease, the new S2k guidelines and relevant recent publications have been incorporated. Both are critically analyzed from a clinical gastroenterologist's perspective. Results. Nowadays the classical presentation of celiac disease with malabsorption represents an exception. There is also a clear increase in cases, especially in the elderly. The underlying cause is both an increase in absolute cases and an improvement in diagnostic tools. Measurement of tissue transglutaminase antibodies is an excellent serological test. However, gastroscopy with duodenal biopsies should be performed to confirm the diagnosis. Conclusions. Despite these obvious improvements, some points have to be kept in mind to avoid a false-negative diagnosis. The diagnosis has to be made before initiation of a gluten-free diet. IgA deficiency can lead to a negative serological result. An incorrect orientation of the biopsies is a frequent cause of underestimation of the histological result. Knowledge of these pitfalls is important to correctly judge test results.