Celiac Disease & Malabsorption

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About Celiac Disease & Malabsorption

Celiac disease is an autoimmune disorder triggered by gluten consumption in genetically susceptible individuals, leading to small intestinal villous atrophy and malabsorption. The condition affects approximately 1% of the population and can present with gastrointestinal symptoms, extraintestinal manifestations, or remain asymptomatic.

Pathophysiology

Gluten proteins (gliadin and glutenin) are deamidated by tissue transglutaminase, creating immunogenic peptides that trigger T-cell mediated immune responses in HLA-DQ2 or HLA-DQ8 positive individuals. This inflammatory cascade leads to villous atrophy, crypt hyperplasia, and increased intestinal permeability, resulting in malabsorption of nutrients including iron, folate, vitamin B12, and fat-soluble vitamins.

Clinical Reasoning

Diagnosis requires a combination of positive serology (anti-tissue transglutaminase, anti-endomysial antibodies), characteristic histological changes on duodenal biopsy, and clinical response to a gluten-free diet. Malabsorption may present as iron-deficiency anemia, osteoporosis, growth retardation in children, or unexplained weight loss, requiring systematic evaluation of nutritional deficiencies and monitoring of treatment response.

References

  1. Inflammatory Bowel Disease - StatPearls. StatPearls / NCBI Bookshelf. https://www.ncbi.nlm.nih.gov/books/NBK470312/