coeliakia

Coeliakia, or celiac disease, is a chronic autoimmune enteropathy triggered by gluten ingestion in genetically predisposed individuals. Gluten, found in wheat, barley, and rye, prompts an immune response that damages the mucosa of the small intestine, leading to villous atrophy and malabsorption.

Most patients carry HLA-DQ2 or HLA-DQ8; additional genetic and environmental factors influence onset. Autoreactive antibodies against tissue transglutaminase (tTG) and endomysium are common; several classes of immune cells contribute to mucosal injury.

Clinical presentation varies by age. Children often have chronic diarrhea, abdominal pain, bloating, and failure to thrive or short stature. Adults may present with iron-deficiency anemia, fatigue, chronic diarrhea or constipation, weight loss, abdominal discomfort, osteoporosis, or infertility.

Diagnosis relies on serology and histology. Screening uses IgA anti-tTG antibodies, with IgA measurement to assess deficiency; if positive or high suspicion, duodenal biopsy is performed showing villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes. Genetic testing for HLA-DQ2/DQ8 can support the diagnosis but is not by itself diagnostic.

Management is lifelong gluten withdrawal. A strict gluten-free diet typically leads to symptom resolution and mucosal healing; nutritional counseling is important. Some patients require supplementation for iron, folate, vitamin D, calcium, or others, and screening for associated conditions is recommended.

Epidemiology: about 1% of the population in many regions; higher prevalence in individuals with a family history or other autoimmune diseases; more common in females.

Prognosis: with adherence to a gluten-free diet, prognosis is good for most, though some patients have persistent symptoms or complications if exposure occurs.