A 14-month-old girl is brought to the office due to a 2-month history of diarrhea. Her parents report that she has 3-5 loose, nonbloody bowel movements daily with occasional episodes of vomiting. She was breastfed exclusively until age 9 months and has since had a well-varied diet including whole milk, fruits, vegetables, bread, and meats. However, the girl has been less interested in food over the past several weeks. There is no history of travel or contacts with similar symptoms. On physical examination, the patient appears well but has lost 1.1 kg (2.5 lb) in the last 2 months. After laboratory evaluation, duodenal biopsy findings are shown in the exhibit. Which of the following would most likely improve this patient's symptoms?
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Celiac disease is a chronic malabsorptive disorder caused by a hypersensitivity to gluten, a protein found in wheat, barley, and rye. Gliadin (a gluten component) triggers an immune-mediated reaction causing villous atrophy, crypt hyperplasia, and intraepithelial lymphocyte infiltration. Normal intestinal villi allow for increased small intestinal surface area to begin the process of digestion and nutrient absorption. The atrophy in celiac disease causes impairment of nutrient absorption in the duodenum and proximal jejunum, regions where the concentration of gluten is the highest.
Classic celiac disease presents after introduction of gluten into the diet (between age 6-24 months) with symptoms of malabsorption (eg, diarrhea, steatorrhea, flatulence, nutrient deficiencies, weight loss). Other manifestations include delayed puberty and short stature in children and anemia in adults. Screening is with serology testing for elevated IgA anti-endomysial and anti-tissue transglutaminase antibodies; diagnosis is confirmed by endoscopic biopsy. With strict adherence to a gluten-free diet, symptom resolution occurs within weeks and is followed by normalization of histology and antibody levels.
(Choice A) Mild gastroesophageal reflux is physiologic in healthy infants, but it can lead to irritability, poor feeding, and inadequate weight gain when severe. The diagnosis is often made clinically and can be treated with conservative changes (eg, smaller feedings) and acid suppression (eg, proton pump inhibitor). Refractory cases may require biopsy, which shows esophageal inflammation.
(Choice B) Anti-inflammatory medications (eg, glucocorticoids, aminosalicylates) are the mainstay of treatment for inflammatory bowel disease (ulcerative colitis [UC] and Crohn disease [CD]). Symptoms include abdominal pain, bloody diarrhea, and weight loss. Colonoscopy may show diffuse colonic inflammation in UC and focal areas of small intestinal and colonic inflammation in CD.
(Choice C) Tropical sprue can occur with extended travel to the tropics and presents with chronic diarrhea, abdominal pain, and flatulence along with similar histologic findings to celiac disease (eg, villous atrophy). The etiology is likely infectious, and the disease is treated with antibiotics. However, this patient has no history of travel.
(Choices D and E) Lactase supplementation or limited lactose intake is recommended for patients with lactose intolerance, which classically presents in older children and adults with bloating, flatulence, abdominal discomfort, and diarrhea. Although biopsy is not indicated for diagnosis, histology would show normal small intestinal architecture with decreased lactase activity.
Educational objective:
Celiac disease (gluten-sensitive enteropathy) classically presents between age 6-24 months with abdominal pain, diarrhea, vomiting, and weight loss. Duodenal biopsy reveals crypt hyperplasia, villous atrophy, and intraepithelial lymphocyte infiltration. Treatment with a gluten-free diet resolves symptoms and normalizes serology and histology.