DDSEP® 8 Quick Quiz

January 2015 Quiz 2

A 25-year-old woman presents to clinic for the evaluation of watery diarrhea and weight loss. The diarrhea typically occurs after eating and has been present for several years. She also stated that her diarrhea occurs during the day and not at nighttime. Her past medical history is notable for recurrent upper respiratory tract infections and pneumonias. Her antitissue transglutaminase and antiendomysial antibody levels were normal. Her serum IgG was 50 mg/dL and her serum IgA was 6 mg/dL. Testing for HLA DQ2 and HLA DQ8 was negative. An upper endoscopy is performed and the findings are shown above (Figure 1). Small bowel biopsies revealed chronic duodenitis with subtotal villous atrophy and increased intraepithelial lymphocytes. No plasma cells were seen on CD138 stain. The immunostain for IgA was negative.

What is the most likely diagnosis?

A. Seronegative celiac disease

B. AIDS-enteropathy

C. Tropical sprue

D. Common variable immunodeficiency

E. Whipple’s disease

ANSWER: D

Critique

Villous blunting is not specific to celiac disease. In this case, the patient’s history supports a diagnosis of common variable immunodeficiency (CVID), which is characterized by low levels of two Ig classes and recurrent infections. The infections most commonly involve the upper and lower respiratory tract.

Chronic diarrhea is seen in 40%-60% of patients and may lead to malabsorption. Diarrhea can be the result of infections (most commonly Salmonella, Campylobacter, Clostridium difficile, and Giardia lamblia), inflammatory disorders, or malignancy. Biopsies reveal villous blunting similar to that seen in celiac disease. Unlike celiac disease, however, the biopsies lack plasma cells. These patients also differ from those with celiac disease in that their celiac serologies are negative.

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