Dr. Schär Institute

The typical or classic form of coeliac disease is characterised by chronic diarrhoea, flatu-lence, unexplained or persistent gastrointesti-nal symptoms such as nausea or vomiting, is the easiest form to recognise. However, the increasing use of laboratory-based analyses such as anti-transglutaminase antibodies that enable screening of coeliac disease using just a simple blood sample, has revealed many other previously unknown forms of coeliac disease. Atypical or non-classic symptoms resulting from such forms of the disease include a short stature, delayed onset of puberty, hepatitis, anaemia through lack of iron (particularly in cases where patients do not react to oral iron treatment), chronic fatigue, frequent stomach pain and recurrent aphthous stomatitis. There are also “silent” forms of coeliac disease – cases where persons suffering no apparent symptoms are diagnosed by chance, for example as the re-sult of a screening of family members of a child suffering from coeliac disease.

Could this wide range of forms mean that there are also differences regarding the intensity and complication risks of the disease? Generally, the answer is no. All cases of coeliac disease – typical, atypical or silent – show the same autoimmune changes in the blood (antibodies) and the same type of damage to the intestinal mucosa in biopsies. The complication risk also remains the same since it is known that, for ex-ample, untreated silent forms of coeliac disease can cause complications such as osteoporosis, neurological conditions. Therefore, despite the chameleon-like nature of coeliac disease, the dietary treatment should always be the same, i.e. a strictly gluten-free diet. However, it re-mains to be determined which strategy is the best for recognising all forms of coeliac dis-ease, including those which are most abstract from a clinical perspective. Until now it had always been assumed that “case finding” was the best solution, i.e. using symptoms or side effects to identify sufferers within groups of persons at risk. Yet, recent data show that this method is only successful in diagnosing 30 % of cases, while the remaining 70 % remain un-diagnosed and therefore continue to expose these sufferers to the risk of complications. It is for this reason that an increasing number of experts are in favour of carrying out a general screening process among the population dur-ing childhood. Today, this approach is not only feasible but could in fact be simplified using a “pre-screening filter” based on research into genetic predisposition for coeliac disease. This would make it possible to take blood samples only from those children who show a genetic predisposition for the disease. This innovative diagnostic strategy would finally make it pos-sible to recognise the chameleon-like coeliac disease even when it changes its appearance.