Coeliac disease (CD), or gluten-sensitive enteropathy, is an immune-mediated enteropathy triggered by the ingestion of gluten in genetically susceptible individuals. Gluten is a mixture of structurally-similar proteins contained in the
cereals wheat, rye and barley . The epidemiology of CD has been rewritten entirely in the last decade. In the past, CD was considered a rare disorder, mostly affecting individuals of European origin and usually characterised by onset during the first years of life. Indeed, this idea is still widespread, so much so that in many European countries CD continues to be included in the list of rare disorders protected by specific regulations of the health care system. On the other hand, a huge number of studies recently have shown that CD is one of the commonest lifelong disorders affecting mankind all over the world (with some remarkable exceptions).
Currently, due to the lack of pathognomonic symptoms, most cases remain undiagnosed and can be recognised only through serological screening by sensitive tools, e.g. serum antitissue transglutaminase (tTG) determination.
CD is frequent in developed countries and increasingly found in some areas of the developing world, e.g. North Africa and India. Thus, this disorder can contribute substantially to childhood morbidity and mortality in many developing countries.
Classical coeliac disease is an inflammatory disorder of the small intestine that is characterised by global malabsorption of macronutrients, minerals and vitamins. It is characterised
histologically by a predominant T-cell infiltration in the epithelium and the lamina propria that may lead to complete destruction of the small intestinal villi and to significant reduction of the gastro intestinal tract absorptive surface [1-4]. Coeliac disease was commonly fatal in the recent past as attested by the 12% mortality among affec ted children repor ted in a retrospective study done in 1939 . The aetiology of this disorder remained unexplained until the Dutch paediatrician Willem Dicke recognised an association between the consumption of wheat products and relapsing diarrhoea. He confirmed his suspicions du ring food shortages in the Second World War when the symptoms of his patients improved as bread was replaced by noncereal containing
foods. After the war, Dicke, Weijers and van de Kamer performed controlled experiments by exposing affected children to defined diets and determining faecal weight and faecal fat as measures of malabsorption. These metabolic
studies demonstrated clearly that wheat, barley and rye triggered gastrointestinal signs and symptoms that defined coeliac disease and that these were reversed after their exclusion from diets . They also identified the toxic agents
as present mainly in the alcohol-soluble gliadin fraction of wheat gluten.
Coeliac disease, or permanent gluten sensitive enteropathy, is recognised as a public health problem worldwide that affects people of all ages . The broad spectrum of symptoms, which are often vague, is easily misinterpreted,
with delayed or missed diagnosis as a consequence.
Untreated, the health implications are extensive. Effective treatment is available through lifelong adherence to a strict glutenfree diet, i.e. exclusion of all foods containing wheat, rye or barley. However, the widespread use of gluten-containing foods makes compliance with treatment difficult.
A multifactorial aetiology is likely . This implies that coeliac disease results from interaction between an individual’s genetic disposition and complex and lifelong environmental
exposures, which jointly shape the immunopathological processes leading to intolerance to gluten proteins.
A genetic susceptibility is a prerequisite for this condition [1, 2]. Almost all coeliac disease subjects express the HLA-DQ2 molecule, and the remainder HLA-DQ8. The search for contributing non-HLA genes has been extensive, but thus far without conclusive results. Inherent in these difficulties is that each genetic risk factor, taken separately, is frequent in the general population, which suggests that it is a combination
of some of these factors and their interaction with environmental factors that induces coeliac disease.