Coeliac disease
Gluten-driven autoimmune enteropathy (HLA-DQ2/DQ8)
Overview
An immune reaction to gluten causing villous atrophy and malabsorption. In children it classically presents with faltering growth and GI symptoms, and is associated with type 1 diabetes and other autoimmunity. Diagnosis is serology-led while still eating gluten.
Recognise
- Faltering growth/weight loss, chronic diarrhoea, abdominal distension, irritability
- Anaemia (iron/folate), fatigue; dermatitis herpetiformis
- Associations: type 1 diabetes, autoimmune thyroid, Down/Turner syndrome, IgA deficiency
Red flags
- Severe malnutrition/failure to thrive; do NOT start a gluten-free diet before testing (false negatives)
Differentials & how to tell them apart
Investigations
Serology WHILE eating gluten: IgA tissue transglutaminase (tTG-IgA) + total IgA (to detect IgA deficiency); confirm with duodenal biopsy (villous atrophy, crypt hyperplasia) per pathway. HLA-DQ2/DQ8 supportive.
Management
tTG-IgA (+ total IgA) while eating gluten → biopsy confirmation → lifelong gluten-free diet
- 1Test tTG-IgA + total IgA while the child is still eating gluten; refer for confirmatory duodenal biopsy per pathway.Gate: Do NOT start a gluten-free diet before testing — it normalises serology/histology and causes false negatives
- 2Confirmed: lifelong gluten-free diet, dietitian input, correct deficiencies, monitor growth and adherence (repeat tTG).
Key points
Test all children with type 1 diabetes/autoimmune thyroid and unexplained faltering growth. IgA deficiency causes false-negative tTG-IgA — which is why total IgA is measured alongside.
Monitor & prognosis
Growth, symptoms, tTG (adherence), bone health.
Excellent on a strict gluten-free diet.
Source: NICE NG20 (coeliac disease)