PE23.12 | Malabsorption — Summary & Reflection

KEY TAKEAWAYS

Malabsorption syndrome in children presents as growth failure + abnormal stools (pale, bulky, floating) + micronutrient deficiency signs. The two principal causes to know in depth are: (1) Coeliac disease — immune-mediated, gluten-triggered villous atrophy; diagnosed by anti-tTG IgA + total IgA (IgA deficiency causes false-negative) + duodenal biopsy (Marsh classification); treatment = lifelong strict gluten-free diet. (2) Cystic fibrosis — CFTR mutation → pancreatic exocrine insufficiency + bronchiectasis; diagnosed by sweat chloride >60 mmol/L + CFTR genetics; treatment = PERT with every meal + high-calorie diet + fat-soluble vitamin supplementation. Key traps: always measure total IgA with anti-tTG IgA; never test serology on a gluten-free diet; D-xylose test low = mucosal disease (not pancreatic); sweat chloride 30–59 = borderline, not diagnostic. Monitor response to treatment by growth velocity and anti-tTG IgA titres.

REFLECT

Consider the child in the hook scenario — 3 years of poor growth, pale stools, and iron deficiency anaemia, attributed by the family to 'poor appetite' and by previous clinicians to 'recurrent infections.' The diagnosis of coeliac disease in this child requires knowing to ask about diet (gluten introduction), knowing which antibody to test, and knowing to add total IgA. Reflect on the barriers to earlier diagnosis: in India, coeliac disease awareness among both the public and many primary care physicians remains low. How would you explain to a parent that their child's entire staple diet (wheat-based roti) is now harmful? What support systems exist for maintaining a gluten-free diet in a low-resource household? These questions are the real-world extension of the clinical diagnosis and are as important for patient outcomes as getting the antibody right.