About This Page
This is a clinician-written, evidence-based summary aligned to the 2026 MLA Content Map. It is intended for medical students and junior doctors preparing for the UKMLA. Always cross-reference with NICE guidance, local protocols, and clinical judgement.
The Bottom Line
- Autoimmune reaction to gluten (gliadin) — causes villous atrophy in the small bowel
- Screen with tissue transglutaminase IgA (tTG-IgA) + total IgA (to exclude IgA deficiency)
- ESPGHAN no-biopsy pathway: tTG-IgA ≥10× ULN + positive EMA + HLA DQ2/DQ8 + symptomatic = diagnosis without biopsy
- Treatment is lifelong strict gluten-free diet — most children show clinical improvement within weeks
- Associated conditions: type 1 diabetes, Down syndrome, Turner syndrome, autoimmune thyroid disease
Overview
Coeliac disease is an autoimmune condition in which ingestion of gluten triggers an immune-mediated inflammatory response in the small intestinal mucosa, leading to villous atrophy and malabsorption. It is one of the most common chronic conditions in children and is significantly underdiagnosed. Strong HLA associations exist — virtually all patients carry HLA-DQ2 (~95%) or HLA-DQ8 (~5%). The condition is lifelong, but strict gluten-free diet leads to mucosal healing and resolution of symptoms.
Epidemiology
Coeliac disease affects approximately 1 in 100 people in the UK, though many remain undiagnosed. Typical presentation peaks at 1–5 years (after gluten is introduced into the diet) and again in adolescence/early adulthood. There is a female predominance (~2:1). Prevalence is significantly higher in first-degree relatives (~10%) and in associated conditions (type 1 diabetes, Down syndrome, Turner syndrome, autoimmune thyroid disease).
Clinical Features
Symptoms
Chronic or intermittent diarrhoea — often pale, bulky, offensive stools (steatorrhoea)
Failure to thrive or poor weight gain (faltering growth)
Abdominal distension and bloating
Abdominal pain — recurrent and often periumbilical
Fatigue and irritability
Iron-deficiency anaemia unresponsive to oral iron
Short stature or delayed puberty
Mouth ulcers (aphthous)
Dermatitis herpetiformis — intensely itchy vesicular rash on extensor surfaces
Signs
Abdominal distension with wasted buttocks (classic toddler presentation)
Pallor (anaemia)
Low BMI or crossing centiles downward on growth chart
Signs of specific nutrient deficiency (iron, folate, vitamin D, calcium)
Dental enamel defects
Investigations
First-line
tTG-IgA (tissue transglutaminase IgA)First-line serological test — highly sensitive and specific. Must be on a gluten-containing diet for at least 6 weeks before testing
Total IgACheck simultaneously — 2–3% of coeliac patients have selective IgA deficiency, causing false-negative tTG-IgA
Second-line
EMA (endomysial antibody) IgAConfirmatory — highly specific (>99%). Required for no-biopsy pathway
IgG-based serology (DGP-IgG or tTG-IgG)Use if IgA-deficient
HLA DQ2/DQ8 typingPart of no-biopsy pathway. Negative result virtually excludes coeliac disease (high negative predictive value)
Specialist
Duodenal biopsy (OGD)Still gold standard when biopsy pathway followed — Marsh classification: villous atrophy, crypt hyperplasia, intraepithelial lymphocytosis
FBC, iron studies, folate, vitamin D, calciumBaseline assessment of nutritional deficiencies
DEXA scanIf prolonged untreated disease — risk of osteoporosis
Management
NICE NG20 — Coeliac disease: recognition, assessment and management & ESPGHAN 2020 guidelines1
Diagnosis pathway (ESPGHAN no-biopsy)
- Symptomatic child with tTG-IgA ≥10× upper limit of normal (ULN)
- Positive EMA-IgA on a separate blood sample
- HLA-DQ2 or HLA-DQ8 positive
- If all three criteria met → diagnosis can be made WITHOUT duodenal biopsy
- If tTG-IgA is raised but <10× ULN → proceed to duodenal biopsy for confirmation
2
Lifelong gluten-free diet
- Strict exclusion of wheat, barley, and rye (oats are usually tolerated but should be uncontaminated)
- Dietetic referral at diagnosis — essential for education and dietary planning
- Prescribable gluten-free staples available on NHS
- Monitor adherence with repeat tTG-IgA (should normalise within 6–12 months on GFD)
3
Nutritional support
- Replace identified deficiencies: iron, folate, calcium, vitamin D
- Monitor growth velocity — should improve rapidly on GFD
- Annual review: growth, symptoms, dietetic assessment, tTG-IgA, FBC, LFTs, calcium/vitamin D
4
Associated conditions screening
- Screen first-degree relatives (offer tTG-IgA)
- Annual thyroid function (association with autoimmune thyroiditis)
- Monitor for type 1 diabetes in at-risk children
- Pneumococcal vaccination — functional hyposplenism is a recognised association
Complications
- Nutritional deficiencies: Iron-deficiency anaemia, folate deficiency, vitamin D deficiency, osteoporosis
- Growth failure: Short stature and delayed puberty if untreated
- Functional hyposplenism: Increased susceptibility to encapsulated organisms — ensure pneumococcal vaccination
- Lymphoma: Enteropathy-associated T-cell lymphoma (EATL) — risk almost eliminated by strict GFD adherence
- Subfertility and recurrent miscarriage: Recognised association if untreated
UKMLA Exam Tips
- 1Classic presentation: toddler with abdominal distension, wasted buttocks, and faltering growth after weaning onto gluten-containing foods
- 2First-line test: tTG-IgA + total IgA. Always check total IgA to exclude IgA deficiency
- 3ESPGHAN no-biopsy: tTG ≥10× ULN + positive EMA + HLA-DQ2/8 → diagnose without biopsy
- 4The patient MUST be on a gluten-containing diet when tested — otherwise false negatives
- 5Dermatitis herpetiformis = coeliac disease of the skin — granular IgA deposits at the dermal papillae on biopsy
- 6Associations: type 1 diabetes, Down syndrome, Turner syndrome, autoimmune thyroid disease — screen these groups
- 7Pneumococcal vaccine: functional hyposplenism is a complication of coeliac disease
practicetest your knowledge on coeliac disease in childrenApply what you've learnt with UKMLA-style questions from the iatroX Q-Bank — paediatrics and beyond.
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