Celiac Disease
A 3-year-old girl has 6 months of bulky, pale, foul smelling stools. Her weight has fallen from the 50th to below the 3rd percentile. Symptoms began several months after wheat cereals were introduced. Examination shows a distended abdomen, wasted buttocks, and irritability. Total IgA is normal with a tissue transglutaminase IgA antibody level more than 10 times the upper limit of normal. Which is the most appropriate management?
- A.Lifelong strict gluten free dietCorrect
- B.Extensively hydrolyzed protein formula
- C.High calorie oral nutritional supplements
- D.Long term fat restricted diet
Explanation
Chronic malabsorptive diarrhea with abdominal distension, wasted buttocks, loss of subcutaneous fat, faltering growth, and iron deficiency anemia after the introduction of wheat is the classic presentation of celiac disease, confirmed here by a strongly positive tissue transglutaminase IgA antibody with a normal total IgA. The disease is a T cell mediated enteropathy triggered by gliadin peptides in genetically predisposed individuals carrying HLA DQ2 or DQ8, causing villous atrophy, crypt hyperplasia, and intraepithelial lymphocytosis in the proximal small bowel, which destroys absorptive surface area. The only effective treatment is lifelong complete elimination of wheat, barley, and rye, which restores mucosal architecture, reverses malabsorption, allows catch up growth, and reduces the long term risks of osteoporosis, infertility, and enteropathy associated T cell lymphoma. Under current ESPGHAN criteria, a child with tissue transglutaminase IgA above 10 times the upper limit of normal confirmed by positive endomysial antibodies on a separate sample can be diagnosed without duodenal biopsy. A hydrolyzed formula is the treatment for cow milk protein allergy, which presents in infancy with eczema and bloody stools rather than steatorrhea after wheat exposure. High calorie supplements alone are futile because the intestine cannot absorb the extra calories while gluten continues to damage the mucosa, although micronutrient replacement is given alongside gluten withdrawal. Fat restriction does not address the underlying enteropathy and worsens caloric intake. Screening is warranted in type 1 diabetes, autoimmune thyroid disease, trisomy 21, Turner syndrome, and first degree relatives.
Why each option
- A.
- Correct. Lifelong strict gluten withdrawal is the only treatment that heals the mucosa and restores growth in celiac disease.
- B.
- Hydrolyzed formula treats cow milk protein allergy, which presents in infancy with eczema and bloody stools rather than post weaning steatorrhea.
- C.
- Extra calories cannot be absorbed while the gluten driven enteropathy persists, so this alone will not reverse the malnutrition.
- D.
- Fat restriction reduces caloric intake without addressing the villous atrophy causing the malabsorption.
Reference: ESPGHAN Guidelines for Diagnosing Coeliac Disease, JPGN 2020
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