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Celiac disease — ABIM Board MCQ

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EasyGastroenterology/HepatologyCeliac diseaseABIM Board

A 28-year-old woman has chronic bloating, intermittent diarrhea, and iron deficiency anemia. Her serum IgA tissue transglutaminase antibody level is 4 times the upper limit of normal, and her total IgA level is normal. She began a gluten-free diet 3 days ago after seeing the laboratory result but can resume eating gluten during the diagnostic evaluation. Which of the following is the most appropriate study to confirm the diagnosis?

Educational content. Not a substitute for clinical judgement or local policy.

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Correct answer: EEsophagogastroduodenoscopy with duodenal biopsies

The correct answer is **A: esophagogastroduodenoscopy with duodenal biopsies**. Her gastrointestinal symptoms, iron deficiency anemia, normal total IgA, and positive tTG-IgA strongly suggest celiac disease. In US adult practice, the diagnosis is generally confirmed histologically with duodenal biopsies. She should resume and continue gluten until testing because gluten restriction can reduce biopsy and serologic sensitivity. Colonoscopy with random biopsies evaluates disorders such as microscopic colitis but does not confirm celiac disease. Hydrogen breath testing assesses carbohydrate malabsorption or small intestinal bacterial overgrowth. Capsule endoscopy is not the initial confirmatory test because it cannot obtain tissue. HLA-DQ2/DQ8 genotyping has high negative predictive value and can help exclude celiac disease in uncertain cases, but a positive result is too common in the general population to confirm the diagnosis.

Reference: Rubio-Tapia A, et al. American College of Gastroenterology Guidelines Update: Diagnosis and Management of Celiac Disease. Am J Gastroenterol. 2023;118(1):59-76. https://pubmed.ncbi.nlm.nih.gov/36602836/