La malattia celiaca nel terzo millennio: Nuove prospettive su patogenesi, clinica, diagnosi e terapia

Celiac disease is a disorder triggered by an immune reaction to gluten contained in wheat and related grains, resulting in the atrophy of small intestinal villi and therefore malabsorption. The identification of tissue transglutaminase as the autoantigen of celiac disease has definitely confirmed the autoimmune nature of this condition. This disease, which can occur only in HLA- DQ2/DQ8 positive patients, is very common in the general population (>1%). Female gender is more commonly affected (F/M = 2:1) and the disease can occur at any age with a myriad of symptoms/manifestations. The great variability of the clinical presentation along with a different expression of diagnostic markers led to the identification of a number of phenotypes, i.e. classical, non classical, subclinical, potential, non-responsive and refractory. The identification of celiac disease is challenging since it can occur not only with diarrhoea and weight loss, but also with other gastrointestinal symptoms (such as constipation, bloating, recurrent abdominal pain), extra- intestinal signs (anaemia, raised transaminases, osteoporosis, recurrent miscarriages, aphthous stomatitis and associated autoimmune disorders) or being completely symptomless. Although small intestinal biopsy remains the diagnostic “gold standard”, highly sensitive and specific serological tests such as tissue transglutaminase and anti-endomysial antibodies of IgA class became more and more important in the diagnostic work-up of celiac disease. Currently, the only treatment for celiac disease is still a long-life strict gluten-free diet, which improves the quality of life with disappearance of symptoms and prevents the complications such as ulcerative jejunoileitis as well as small intestinal adenocarcinoma and lymphoma.