Clinical Manifestations of Celiac Disease and Diagnostic Criteria: Differences among Children, Adolescents and Adults

Maria Luisa Mearin, Miguel Montoro Huguet, Isabel Polanco, Carmen Ribes Köninckx, Santos Santolaria


Celiac disease (CD) was originally considered a pediatric disorder characterized by malabsorption and steathorrhea.  Subsequently it was recognized that CD could affect adults at any age.  Currently, in some centers, the greatest number of diagnoses of CD is performed in adults between 30 and 50 years.  An overall decrease in the prevalence of diarrheal presentations over the past 2 decades, accompanied by an increase in “non-classical” manifestations of the disease, has been well described in both children and adults.  Among children, clinical presentation is affected especially by the age.  Very young children (< 3 years old) present more often with diarrhea, abdominal distension, and failure to thrive, whereas older children and adolescents are more likely to present with other gastrointestinal symptoms (recurrent abdominal pain, vomiting, or constipation) or extraintestinal symptoms.  In adults, the major mode of presentation is diarrhea, although this presentation occurs in fewer than 50% of patients, and non-specific gastrointestinal symptoms, which bear a large degree of overlap with functional dyspepsia, irritable bowel syndrome or functional diarrhea.  Extraintestinal symptoms such as iron-deficiency anemia, osteoporosis, dermatitis herpetiformis, recurrent apthous stomatitis, hipertransaminasemia, or neuropsychiatric manifestations are not infrequent.  With the objective of improve the recognition and diagnosis of CD several guides to clinical practice have been published in both children and adults. In general, these guidelines recommend offering serologic testing for CD in patients with symptoms or conditions associated with CD.  The confirmation of a diagnosis of CD should be based on a combination of findings from the clinical presentation, CD-specific antibodies, duodenal biopsies, HLA-DQ2/DQ8 genotyping, and the response to a gluten free diet.  Duodenal biopsies may not be mandatory for CD diagnosis in HLA-DQ2 and/or -DQ8 symptomatic patients with anti-transglutaminase antibodies over 10 times the upper limit of normal and positive endomysial antibodies.

Palabras clave

Celiac disease; Diarrhea; Gastrointestinal symptoms; Extraintestinal symptoms; Anti-transglutaminase antibodies; HLA-DQ2/DQ8; Duodenal biopsies; Gluten free diet

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