[Celiac disease. Recent findings on its pathogenesis, diagnosis and clinical presentation]

Coeliac disease is a gluten-sensitive enteropathy which results in a permanent malabsorption of nutrients in that portion of the small intestine (the jejunum) that is damaged. A genetic, inheritable disease, it is directly related to ingestion of certain wheat proteins especially found in rye secalins, barley hordeins and, in a much lower amount, oat avenins. A fundamental role in the pathological response is played by grain prolamins (gliadins). The actual damage to intestinal mucosa is almost certainly mediated by the immune system but its mechanism has not been so far clarified. Coeliac disease incidence rate is ever increasing among children and adolescents and it is rather frequently reported as relapsing in the third and fourth decade. The most distressing problems of malabsorption syndrome are diarrhea, weight loss, meteorism, abdominal pain, vomiting and asthenia; nonetheless, not all patients report symptoms. Both diagnosis and differential diagnosis--intestinal lymphoma, refractory sprue--prove difficult: a diagnosis of gluten intolerance can be made through careful consideration of a series of laboratory findings which are being improved by researchers in order to avoid delays for patients with probable gluten-sensitive enteropathy with non-specific symptoms. Although there may be many clinical signs and laboratory tests indicating probable malabsorption, the likely gold standard of diagnosing coeliac disease remains to be the jejunal biopsy.