Celiac

Celiac disease, also known as celiac sprue or gluten-sensitive enteropathy, is an autoimmune disorder triggered by ingestion of gluten in genetically predisposed individuals. It mainly affects the small intestine, where an immune-mediated reaction damages the lining and impairs nutrient absorption.

Gluten, a composite of storage proteins found in wheat, barley, and rye, activates an immune response in people who carry certain genetic variants, most commonly HLA-DQ2 or HLA-DQ8. This leads to inflammation, villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes, causing malabsorption and a range of symptoms.

Symptoms are variable and can involve the digestive tract or non-gastrointestinal systems. Common signs in children include chronic diarrhea, abdominal pain, bloating, and growth delay. In adults, fatigue, iron-deficiency anemia, osteoporosis, mouth ulcers, infertility, and dermatitis herpetiformis may occur.

Diagnosis relies on serologic testing and histology. Screenings typically use tissue transglutaminase IgA antibodies (tTG-IgA) with total IgA measurement; if indicated, endomysial antibodies (EMA) may be used. A positive serology is usually confirmed by an intestinal biopsy showing villous atrophy and crypt hyperplasia (Marsh 3). Genetic testing for HLA-DQ2/DQ8 may help in uncertain cases.

Treatment is lifelong and strict: a gluten-free diet removing wheat, barley, and rye and avoiding cross-contamination. Nutritional deficiencies should be corrected, and regular follow-up assesses symptom resolution and serologic response. With good adherence, prognosis is favorable, but untreated disease can lead to nutritional problems, osteoporosis, infertility, and increased risk of certain intestinal cancers and other autoimmune diseases.