Dr. Schär Institute

The typical intestinal form of celiac disease, which normally affects young children and is characterized by chronic diarrhea, loss of ap-petite, stunted growth and a bloated stomach, has long been known and is the easiest form to recognize. However, the increasing use of laboratory-based analyses such as anti-trans-glutaminase antibodies that enable diagnosis of celiac disease using just a simple blood sample, has revealed many other previously unknown forms of celiac disease. Atypical or non-clas-sic symptoms resulting from such forms of the disease include a short stature, delayed onset of puberty, hepatitis, anemia 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 ce-liac disease – cases where individuals suffer-ing no apparent symptoms are diagnosed by chance, for example as the result of a screening of family members of a child suffering from celiac disease.

Could this wide range of presentation mean that there are also differences regarding the in-tensity and complication risks of the disease? Generally, the answer is no. All cases of celiac disease – typical, atypical or silent – show the same autoimmune changes in the blood (anti-bodies) and the same type of damage to the in-testinal mucosa in biopsies. The complication risk also remains the same since it is known that untreated silent forms of celiac disease can cause complications such as osteoporo-sis, neurological conditions or immunity to dietary treatments (a subject addressed in an-other article in this edition). Therefore, despite the chameleon-like nature of celiac disease, the dietary treatment should always be the same, i.e. a strictly gluten-free diet.

However, it remains to be determined which strategy is the best for recognizing all forms of celiac disease, including those which are most abstract from a clinical perspective. Until now it had always been assumed that “case find-ing” was the best solution, i.e. using symptoms or side effects to identify sufferers within groups of individuals at risk. Yet, recent data show that this method is only successful in diagnosing 30 % of cases, while the remaining 70 % remain undiagnosed and therefore continue to expose these individuals to the risk of complications. It is for this reason that an increasing number of experts are in favor of carrying out a gen-eral screening of the population during child-hood. Today, this approach is not only fea-sible but could in fact be simplified using a “pre-screening filter” based on research into genetic predisposition for celiac 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 possi-ble to recognize the chameleon-like celiac dis-ease even when it changes its appearance.