Current methods to diagnose the unresponsive and complicated forms of coeliac disease

Abstract 

Coeliac disease is a common disorder. Due to the protean manifestations of the disease and the often mild but indolent course, the diagnosis is often missed. The method to diagnose this in principle reversible disease after the introduction of a gluten-free diet has attracted the attention of several scientific disciplines to find the simplest and most patient-friendly test. This has resulted in a noticeable impact on the clinical practice next to a general increased awareness of its existence, its pathogenesis, its course and recent evidence of increased mortality.

Amendments made in the diagnostic criteria of coeliac disease over the last half century have simplified the diagnosis. However, the aspect most relevant to the specialist in internal medicine is related to its grave consequences when the disease fails to respond to a gluten-free diet. These refractory cases may culminate in severe complications with sombre endings and malignancy. Fortunately, current technology can offer the specialist in internal medicine more facilities to diagnose the cause of the complicated cases in order to attempt to intervene in the course of disease and hopefully save these patients.

We review the available tools that now exist and their indications that can be practiced in a modern clinical setting for the diagnosis of the complicated forms of this disease.

Abbreviations: AGA, anti-gliadin antibodies, CD, coeliac disease, CT, computerized tomography, DBE, double-balloon enteroscopy, EATL, enteropathy-associated T-cell lymphoma, EMA, endomysium antibodies, FACS, flow cytometry, GFD, gluten-free diet, HLA, human leukocyte antigen, IELs, intraepithelial lymphocytes, MRI, magnetic resonance imaging, RCD, refractory coeliac disease, tTGA, tissue transglutaminase antibodies, TCR, T-cell receptor, VCE, video capsule endoscopy

Keywords: Coeliac disease, Refractory coeliac disease, Complications, Diagnosis, Diagnostic algorithms