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Coeliac disease

Definition
  • A chronic autoimmune condition triggered by the ingestion of gluten in genetically predisposed individuals, causing inflammation and damage to the small intestine mucosa.
Epidemiology
  • Prevalence in Europe is approximately 1%.
  • Higher prevalence in first-degree relatives of affected individuals.
Clinical Features
  • Gastrointestinal symptoms: Diarrhoea, abdominal pain, bloating, weight loss, nausea, vomiting.
  • Extraintestinal manifestations: Dermatitis herpetiformis, anaemia, osteoporosis, fatigue, mouth ulcers, infertility, neuropathy, ataxia.
  • Children: Failure to thrive, delayed puberty, dental enamel defects.
Investigations
  • Serology: Anti-tissue transglutaminase (tTG) antibodies, anti-endomysial antibodies (EMA).
  • Small bowel biopsy: Villous atrophy, crypt hyperplasia, increased intraepithelial lymphocytes.
  • Duodenal biopsy is the gold standard for diagnosis.
  • Genetic testing: HLA-DQ2 and HLA-DQ8.
Management
  • Gluten-free diet: Lifelong dietary restriction of gluten-containing foods.
  • Referral to a dietitian for guidance and support.
  • Calcium and vitamin D supplementation.
  • Regular follow-up to assess dietary compliance and check for complications.
Complications
  • Osteoporosis: Due to malabsorption of calcium and vitamin D.
  • Small bowel lymphoma and adenocarcinoma (rare).
  • Iron-deficiency anaemia.
  • Infertility and recurrent miscarriage.
Associated Conditions
  • Type 1 diabetes mellitus.
  • Thyroid disorders.
  • Autoimmune liver diseases.
  • Down’s syndrome and Turner syndrome.

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