Standard pre‑examination protocol – must be demonstrated:
Action: Introduce yourself, explain the examination, and obtain verbal consent from parent/guardian (or child).
Key areas: growth, nutrition, and extra‑intestinal signs.
Systematic approach: inspection, auscultation, palpation, percussion.
Expected findings in a child with untreated celiac disease:
| System | Findings |
|---|---|
| Growth | Weight & height below 3rd–5th percentile or crossing major percentiles downward; BMI low. |
| Nutrition | Muscle wasting (gluteal, quadriceps), loss of subcutaneous fat, loose skinfolds, abdominal distension. |
| Skin | Pallor (anaemia), dermatitis herpetiformis (if present – highly specific), ecchymoses (vitamin K). |
| Oral | Aphthous ulcers, enamel hypoplasia (permanent teeth). |
| Abdomen | Distended, tympanitic, hyperactive bowel sounds; non‑tender; no organomegaly (unless associated liver disease). |
| Neurological | Ataxia, peripheral neuropathy (vitamin E deficiency – late). |
| MSK | Bone pain, rickets (vitamin D deficiency), delayed puberty. |
📋 Case Presentation
A 3‑year‑old girl presents with abdominal distension, clubbing, and poor weight gain On examination, the child is irritable, has muscle wasting and a protuberant abdomen. There is no fever or significant abdominal tenderness. Growth parameters show weight <3rd percentile and height at the 10th percentile.
Examiner will probe: differential diagnosis, diagnostic approach, treatment, and long‑term care.
• Cow’s milk protein allergy / enteropathy
Negative points: onset usually within first months of life, not after gluten introduction; usually resolves with milk elimination; no specific antibodies (tTG normal).
• Post‑infectious enteropathy (giardiasis, viral)
Negative points: acute onset, often self‑limiting; giardiasis may have foul‑smelling diarrhoea but no growth failure; tTG normal; stool microscopy positive.
• Cystic fibrosis (pancreatic insufficiency)
Negative points: associated with recurrent chest infections, meconium ileus, clubbing; sweat chloride >60 mEq/L; normal tTG.
• Crohn disease
Negative points: often has abdominal pain, bloody diarrhoea, perianal disease; elevated CRP/ESR; normal tTG; endoscopy shows skip lesions.
• Autoimmune enteropathy (rare)
Negative points: very early onset (<6 months); associated with other autoimmune diseases; anti‑enterocyte antibodies; normal tTG.
• Immunodeficiency (CVID, IgA deficiency)
Negative points: recurrent infections, low immunoglobulins; tTG may be falsely low in IgA deficiency (use IgG‑based testing).
• Tropical sprue / environmental enteropathy
Negative points: history of travel to endemic areas; responds to antibiotics; tTG normal.
• Carbohydrate malabsorption (lactose, sucrose‑isomaltase)
Negative points: isolated carbohydrate intolerance; no growth failure; stool pH <5.5 with reducing substances; tTG normal.
Serology (first line):
• Anti‑tissue transglutaminase IgA (tTG‑IgA) – sensitivity >95%
• Total serum IgA (to rule out IgA deficiency)
• If IgA deficient: tTG‑IgG or deamidated gliadin peptide (DGP) IgG
• Endomysial antibody (EMA) – confirmatory if tTG borderline
Small bowel biopsy (gold standard):
• At least 4–6 biopsies from duodenum (including bulb)
• Marsh score ≥ 2 (increased IEL) or 3 (villous atrophy)
Supporting tests:
• CBC (anaemia – iron, folate, B12), ferritin, folate, vitamin B12
• Vitamin D, calcium, ALP (bone health), LFTs
• HLA‑DQ2/DQ8 (if diagnostic uncertainty, or on GFD)
Lifelong gluten‑free diet (GFD):
• Strict avoidance of wheat, rye, barley (and contaminated oats).
• Dietitian referral – essential for education and monitoring.
• Gluten‑free substitutes: rice, corn, quinoa, buckwheat, millet.
Nutritional rehabilitation:
• Correct micronutrient deficiencies: iron, folate, B12, vitamin D, calcium.
• Monitor weight and height gain; catch‑up growth expected.
• Consider lactose restriction initially (secondary lactase deficiency).
Follow‑up:
• Repeat tTG‑IgA at 6–12 months (should decrease).
• Clinical response (symptom resolution, growth improvement).
• If no response: reassess dietary compliance, consider refractory celiac disease.
Short‑term (3–6 months):
• Symptom improvement (abdominal pain, diarrhoea, energy).
• Weight gain and growth velocity.
• Repeat tTG‑IgA (should fall by 50% or more).
Long‑term (annually):
• Monitor growth, BMI, and pubertal development.
• Check haematinics, vitamin D, calcium, LFTs, thyroid function (associated autoimmune conditions).
• Bone density (DEXA) if prolonged disease or poor adherence.
Complications if untreated:
• Growth failure, delayed puberty, osteoporosis.
• Other autoimmune diseases (type 1 diabetes, thyroiditis).
• Rare: intestinal lymphoma (enteropathy‑associated T‑cell lymphoma), refractory celiac disease.
📌 Additional viva topics: