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A 23-year-old woman presented for assessment of positive celiac disease serologic testing. The testing was performed at the patient’s request because her 15-year-old brother was diagnosed with celiac disease. Based on her test results, the patient was advised to commence a gluten-free diet. However, she believed that a small intestinal biopsy would be appropriate to confirm her diagnosis and sought another opinion.
The patient did not report any symptoms. She was the eldest of 6 children who were healthy except for the 1 sibling with celiac disease. Her mother had a history of thyroid cancer. Results of her physical examination were normal except for dental enamel defects (with both color and structural changes; Figure). Her body mass index (calculated as weight in kilograms divided by height in meters squared) was 21, and her level of 25-hydroxyvitamin D was low at 18 ng/mL (reference range, 20-50). There was no evidence of other vitamin or mineral deficiency, anemia, or thyroid dysfunction.
Lebwohl B, Green PHR. Antitissue Transglutaminase IgA for Celiac Disease Testing. JAMA. 2016;315(1):81–82. doi:10.1001/jama.2015.15283