Celiac Disease: a review

Abstract

Celiac Disease (CD) is an immune-mediated enteropathy in response to the ingestion of gluten in genetically predisposed individuals, causing a malabsorptive syndrome. This review aims to conceptualize CD, describe its pathophysiology, highlight its epidemiology, detail associated clinical presentations, outline the diagnostic approach, and explain the treatment. To achieve this, works in English, Portuguese, and Spanish from the last five years were sought in the following databases: PubMed, LILACS, and SciELO, using the following keywords: “doença celíaca” and “celiac disease.” The search resulted in 175 articles, with 40 works chosen after screening and evaluation. The results revealed that CD affects approximately 1% of the global population, can be diagnosed at any age, but with more typical symptoms in children and atypical symptoms in adults. The pathogenesis involves the genetic factor HLA DQ2/DQ8, gluten ingestion, the formation of tissue transglutaminase antibodies, and an inflammatory reaction that damages the duodenum, impairing its absorptive function. Typical symptoms include chronic diarrhea, abdominal distension, weight loss, poor growth, and vitamin deficiencies. Atypical symptoms include dermatitis herpetiformis, refractory iron-deficiency anemia, delayed puberty, infertility, and neurological diseases. Diagnosis involves a suspected clinical picture, serologies for autoantibodies, genetic testing, and duodenal biopsy. Treatment is lifelong adherence to a gluten-free diet. Despite being well-characterized, CD remains underdiagnosed, and additional studies are needed.