Coeliac disease: rational approach to the diagnosis

BACKGROUND Celiac disease is a chronic food intolerance caused by gluten ingestion determining in genetically susceptible individuals a damage of small intestinal mucosa resulting in villous atrophy and malabsorption. This condition is more frequent in women (female/male ratio 2:1) with an onset at any age (from the first infancy to the elderly) and a very high prevalence in the general population (1%), but at present largely underdiagnosed. From a clinical point of view, the identification of gluten-sensitive enteropathy is challenging since it can present with several gastrointestinal (diarrhoea, constipation, recurrent abdominal pain) and extra-intestinal symptoms (anaemia, raised transaminases, osteoporosis, recurrent abortion, aphthous stomatitis and associated autoimmune disorders) or being completely symptomless. Its diagnosis relies on antibody markers (anti tissue transglutaminase and anti endomysial antibodies) and duodenal biopsy (the diagnostic gold standard with the typical villous atrophy), whereas HLA determination can only exclude the diagnosis when DQ2/DQ8 are absent. However, since not all antibodies and histological duodenal changes related to celiac disease are specific for gluten-sensitive enteropathy, the phenomenon of patients erroneously identified as coeliacs is increasing.
CONCLUSIONS The implementation of a diagnostic algorythm for celiac disease, based on essential tests and applicable everywhere, with a different protocol for subjects at high risk (with malabsorption syndrome), at low risk (monosymptomatic) and with familiarity for the disease has become mandatory in order to make a correct and earlier diagnosis.