Diagnosis of coeliac disease: time for a change?

Abstract

Diagnosing coeliac disease is not easy. Current recommendations stem from a 1970 statement of the European Society for Paediatric Gastroenterology and Nutrition (ESPGAN)l and call for: histological evidence of the lesion; evidence of its disappearance after an adequate period on a gluten free diet; and evidence of its recurrence after the reintroduction of gluten into the diet. Such a procedure, which seems to be widely accepted in Europe,2 is probably optimal for a firm diagnosis, but has several drawbacks, particularly in the light of new developments that have since taken place. Firstly, the time required for the final diagnosis is unduly long (three years on average); secondly, it does not take into account the variability in clinical expression of the disease; thirdly, it does not take into account the fact that after the age of 2 years it is highly unusual for subtotal villous atroph! to be caused by diseases other than coeliac disease ; and, fourthly, it means re-exposing a child to the offending agent in order to reproduce the mucosal damage. Furthermore, even this challenge (which is now known to be potentially harmful to the child's growing potential3 4) might be inconclusive, as evidence is now mounting that relapse may take longer than two years.2 5 6 It is therefore not surprising that several workers have started to adopt a somewhat more flexible attitude to the diagnosis that takes into account some new laboratory investigations (particularly the presence of antigliadin antibodies) and improved knowledge of the clinical range of the disease that has been acquired since the diagnostic protocol was introduced almost 20 years ago. For these reasons, the Italian Working Group for Paediatric Gastroenterology (which was formed in 1976 and has 250 members) undertook an evaluation of the current approach to the diagnosis of coeliac disease in Italy to verify whether a simplified, more flexible approach was possible. The following points were retrospectively assessed, in a total of 3138 patients with coeliac disease from 33 different centres: (i) the importance of human leucocyte antigen (HLA) typing and the presence of antigliadin antibodies; (ii) the need for repeated intestinal biopsy in so called 'atypical' cases or in cases presenting in older children; (iii) the predictive value of the presence of 'flat mucosa' in a child with clinical or laboratory evidence, or both, suggesting coeliac disease; and (iv) the feasibility and evaluation of gluten challenge. The collected data were analysed and presented by invited experts in a two day meeting in Trieste in May 1987. During the meeting each point was discussed and a final consensus was reached, in a session chaired by A Rubino. The most important points are summarised below.