Pitfalls in the Diagnosis of Coeliac Disease and Gluten-Related Disorders

Abstract

The spectrum of gluten-related disorders (GRD) has emerged as a relevant phenomenon possibly impacting on health care procedures and costs worldwide. Current classification of GRD is mainly based on their pathophysiology, and the following categories can be distinguished: immune-mediated disorders that include coeliac disease (CD), dermatitis herpetiformis (DH), and gluten ataxia (GA); allergic reactions such as wheat allergy (WA); and non-coeliac gluten sensitivity (NCGS), a condition characterized by both gastrointestinal and extra-intestinal symptoms subjectively believed to be induced by the ingestion of gluten/wheat that has recently gained popularity. Although CD, DH, and WA are well-defined clinical entities, whose diagnosis is based on specific diagnostic criteria, a diagnosis of NCGS may on the contrary be considered only after the exclusion of other organic disorders. Neither allergic nor autoimmune mechanisms have been found to be involved in NCGS. Mistakes in the diagnosis of GRD are still a relevant clinical problem that may result in overtreatment of patients being unnecessary started on a gluten-free diet and waste of health-care resources. On the basis of our clinical experience and literature, we aim to identify the main pitfalls in the diagnosis of CD and its complications, DH, and WA. We provide a practical methodological approach to guide clinicians on how to recognize and avoid them.

Keywords: celiac disease; diagnosis; gluten; non-coeliac gluten sensitivity; wheat; wheat allergy.

Figure 1

Classification of diagnostic errors in coeliac disease. CD: coeliac disease; GFD: gluten-free diet; NRCD: nonresponsive coeliac disease; RCD: refractory coeliac disease; AGA: anti-gliadin antibodies; DGP: antibodies against deamidated gliadin peptides.

Figure 2

Proposal for a nosographic classification of clinical scenarios responsible for persisting clinical and/or histological abnormalities in coeliac patients on a gluten-free diet for 12–18 months. GFD: gluten-free diet; VA: villous atrophy; CCD: complicated coeliac disease.