Miguel Ángel Montoro Huguet, Manuel Dominguez
Celiac disease (CD) is a common conditon afectng up to 1% of the adult populaton ofCaucasoid origin. It arises from an infammatory response to dietary gluten in the small intestnein genetcally predisposed individuals. Its clinical presentatons are grouped into four categories: 1) Classic celiac disease, defned onthe basis of diarrhea with failure to thrive or weight loss (a rare occurrence in contemporaryadult presentaton in); 2) “Atypical” gastrointestnal presentaton, defned on the basis of a set ofnonspecifc and persistent gastrointestnal symptoms, ofen misdiagnosed as a digestvefunctonal disorder; 3) Extraintestnal presentaton, defned on the basis of signs or symptomsoutside the gastrointestnal tract, such as iron defciency anemia or short stature and 4) Silentpresentaton. The later is identfed through testng due to a family history of CD or a celiacdisease-associated conditon (i.e. type 1 diabetes mellitus). The CD diagnosis is confrmed if at least 4 of the following 5 criteria are satsfed: typical CDsymptoms, serum-positve celiac disease class-A immunoglobulin autoantbodies at high tters,presence of HLA-DQ2 and/or-DQ8, celiac enteropathy in small bowel biopsy and response to thegluten-free diet. Seronegatve CD is likely to be underestmated due to the tendency to performsmall intestnal biopsies only in patents with positve celiac disease serum markers. Whilst themajority of patents will respond to a gluten-free diet, a signifcant minority will contnue to besymptomatc. In such cases, it is essental that a systematc follow-up approach be adopted.
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