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Coeliac disease — DCH MCQ

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HardCommon childhood illnessesCoeliac diseaseDCH

A 4-year-old girl has a 6-month history of intermittent loose, bulky stools and abdominal distension. Her weight has crossed down two centile spaces despite preserved linear growth, and she is pale with microcytic anaemia. She eats gluten-containing foods every day. There has been no foreign travel or untreated-water exposure. Her mother has autoimmune thyroid disease. Which is the most appropriate first-line investigation for the unifying diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

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Correct answer: B — Serum total IgA and IgA tissue transglutaminase antibodies

Explanation lettering: D = shown as B · E = shown as C · C = shown as D · B = shown as E

D is correct. Persistent gastrointestinal symptoms, abdominal distension, faltering weight and microcytic anaemia form a typical coeliac disease phenotype. NICE recommends serum total IgA and IgA tissue transglutaminase antibodies as first-choice testing in children. Measuring total IgA identifies IgA deficiency, in which IgG-based coeliac antibodies are required. Testing must occur while the child continues eating gluten, and a gluten-free diet should not begin before specialist confirmation. Stool microscopy is less appropriate without relevant exposure and does not explain the overall growth and haematological pattern. Ultrasonography does not diagnose coeliac disease. Cortisol testing requires features suggesting adrenal insufficiency, while pancreatic enzymes are not screening tests for chronic intestinal malabsorption.

Reference: NICE guideline NG20. Coeliac disease: recognition, assessment and management, recommendations 1.1.1, 1.1.3 and 1.2.3. 2015. https://www.nice.org.uk/guidance/ng20/chapter/Recommendations