Celiac Disease: A Comprehensive Review of Epidemiology, Pathogenesis, and Therapeutic Strategies

Celiac disease (CD) is a T-cell-immune mediated enteropathy triggered by gluten ingestion in genetically susceptible individuals. The estimated global prevalence is 1% (range 0.7-1.4%), and the clinical manifestation results from a complex interplay of genetic, immunologic, and environmental factors. Although it occurs predominantly in predisposed individuals with the genetic haplotypes HLA-DQ2, HLA-DQ8, or DQA1*05 haplotypes, several other predisposing genes have been described. Clinical presentations are variable and include both gastrointestinal and extraintestinal manifestations, contributing to underdiagnosis. Diagnosis is based on a combination of positive serologic tests-such as IgA tissue transglutaminase and IgG deaminated gliadin peptide in IgA-deficient patients, which are used for screening- characteristic histological findings on duodenal biopsy, and symptom resolution following initiation of a gluten-free diet (GFD). Poorly controlled disease may lead to complications, including osteoporosis, malnutrition, vitamin deficiencies, and small bowel lymphoma. A strict gluten-free diet is the only effective treatment, with symptom improvement typically observed within weeks of initiation of therapy. However, adherence is often challenging, socially isolating, and a multidisciplinary approach is essential for optimal management. Several non-dietary therapeutic strategies are currently under investigation. This review summarizes current evidence on epidemiology, pathophysiology, diagnosis, and management of CD, while highlighting emerging therapeutic strategies and approaches to patient care.