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Coeliac Disease

Background Knowledge 🧠

Definition

A chronic autoimmune condition triggered by the ingestion of gluten in genetically predisposed individuals, causing inflammation and damage to the small intestinal mucosa.

Epidemiology

  • Prevalence in Europe is approximately 1%.

  • Higher prevalence in first-degree relatives of affected individuals.

Clinical Features 🌡️

Clinical Features

  • Gastrointestinal symptoms: Diarrhoea, abdominal pain, bloating, weight loss, nausea, vomiting.

  • Extraintestinal manifestations: Dermatitis herpetiformis, anaemia, osteoporosis, fatigue, mouth ulcers, infertility, neuropathy, ataxia.

  • In children: Failure to thrive, delayed puberty, dental enamel defects.

Investigations 🧪

Diagnostic Tests

  • 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 🥼

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.

Associated Conditions

  • Type 1 diabetes mellitus.

  • Thyroid disorders.

  • Autoimmune liver diseases.

  • Down’s syndrome and Turner syndrome.

Complications

  • Osteoporosis: Due to malabsorption of calcium and vitamin D.
  • Small bowel lymphoma and adenocarcinoma (rare).
  • Iron-deficiency anaemia.
  • Infertility and recurrent miscarriage.

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The gold standard diagnostic investigation in coeliac disease is:


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