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Coeliac disease in child — RACGP Fellowship MCQ

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HardPaediatrics and adolescentCoeliac disease in childRACGP Fellowship

A 2‑year‑old boy presents with poor weight gain, bulky foul‑smelling stools and abdominal distension. His mother has autoimmune thyroid disease. Haemoglobin is 102 g/L and ferritin is low. What is the most appropriate initial investigation?

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Correct answer: C — Coeliac serology (tTG‑IgA and total IgA) while the child continues to consume a gluten‑containing diet

Option C is correct. The combination of malabsorptive symptoms and iron‑deficiency anaemia in a toddler with a family history of autoimmune disease is highly suggestive of coeliac disease. Australian clinical guidelines require coeliac serology (tTG‑IgA plus total IgA) to be performed while the patient continues a gluten‑containing diet. A gluten‑free diet trial before testing undermines both serological and histological diagnosis and must be avoided. Faecal occult blood testing and hydrogen breath testing are not indicated in this scenario. Colonoscopy targets the colon and is not appropriate for diagnosing a proximal small intestinal disease in children.

Reference: Testing for coeliac disease (Therapeutic Guidelines) and Interpreting tests for coeliac disease (RACGP), both emphasise need for gluten-containing diet at serology testing and outline appropriate diagnostic approach.