Emil presented at 10 years of age because of abdominal pain, and diarrhea since 3 months, weight loss of 1 kg
Physical examination: no abnormalities, height and weight for age: 60th percentile, BMI: 50th percentile.
Six months ago, his pediatrician diagnosed celiac disease. Since then Emil is keeping a strict gluten free diet (GFD).
Review of his diagnostic work-up prior start of GFD revealed the following results:
CeD-Serology at time of diagnosis (tissue transglutaminase antibodies=TGA, deaminateded gliadin peptides=DGP)
TGA-IgA = 30 U/ml (normal <20 U/ml) (Manufacturer: Euroimmun, Germany)
DGP-IgA = 104 U/ml (normal <25 U/ml), (Manufacturer: Euroimmun, Germany)
DGP-IgG = <10 U/ml (normal <25 U/ml) (Manufacturer: Euroimmun, Germany)
Total-IgA = 1.9 g/L (normal 0.5 – 2.0 g/l)
Other Lab values: CBC, ALT, AST, Lipase, Ca, Na, K: normal
No biopsies were performed.
Recommandation of Pediatricians: GFD because of CeD, follow up in 3 months with measurement of antibodies against EMA (Endomysium)
Work up at presentation
Upper Endoscopy &Sigmoidoscopy: Normal, Histopathology of duodenum: Marsh 0
TGA-IgA = 1.2 U/ml (normal <7 U/ml) (Manufacturer: ThermoFisher, Germany)
EMA-IgA negative (<1:5)
Stool: soft, pH 5.5, negative for pathogens, including parasites
Other Lab-values: normal
Dietary history revealed extensive consumption of milk (>500 ml/d), fruits, apple juice
Therapy and follow up:
è Stool normalized, no abdominal pain
è H2 breath test with fructose: normal; with lactose – lactose intolerance
è No recurrence of diarrhea or abdominal pain, no other symptoms ocurred
è TGA-IgA after 3, 6, 12 and 24 months all < 2 U/ml (normal <7 U/ml) (Manufacturer: ThermoFisher), EMA-IgA remaineds negative
Final diagnosis: Lactose intolerance, no celiac disease
Identified mistakes and take home messages:
FACIT: The child received the wrong diagnosis with all implications for him and the parents: induction of anxiety, unneeded gluten free diet and later upper endoscopy to prove normal mucosa prior gluten introduction, resulting in increased costs and decreased quality of life.
1. Husby S, Koletzko S, Korponay-Szabo IR, et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr 2012;54:136-60.
2. Husby S, Koletzko S, Korponay-Szabo I, et al. European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2020. J Pediatr Gastroenterol Nutr. Jan 2020;70(1):141-156.