Celiac Disease in Adults

Miguel Montoro Huguet, Manuel Domínguez Cajal


Celiac disease (CD) is a common condition affecting up to 1% of the adult population of Caucasoid origin. It arises from an inflammatory response to dietary gluten in the small intestine in genetically predisposed individuals.

Its clinical presentations are grouped into four categories: 1) Classic celiac disease, defined on the basis of diarrhea with failure to thrive or weight loss (a rare occurrence in contemporary adult presentation in); 2) “Atypical” gastrointestinal presentation, defined on the basis of a set of nonspecific and persistent gastrointestinal symptoms, often misdiagnosed as a digestive functional disorder; 3) Extraintestinal presentation, defined on the basis of signs or symptoms outside the gastrointestinal tract, such as iron deficiency anemia or short stature and 4) Silent presentation. The latter is identified through testing due to a family history of CD or a celiac disease-associated condition (i.e. type 1 diabetes mellitus).

The CD diagnosis is confirmed if at least 4 of the following 5 criteria are satisfied: typical CD symptoms, serum-positive celiac disease class-A immunoglobulin autoantibodies at high titers, presence of HLA-DQ2 and/or-DQ8, celiac enteropathy in small bowel biopsy and response to the gluten-free diet. Seronegative CD is likely to be underestimated due to the tendency to perform small intestinal biopsies only in patients with positive celiac disease serum markers. Whilst the majority of patients will respond to a gluten-free diet, a significant minority will continue to be symptomatic. In such cases, it is essential that a systematic follow-up approach be adopted.

Palabras clave

celiac, adults, symptoms, misdiagnosed

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