A Previously Healthy Teenager with Anasarca

Abstract

Laboratory studies show a mildly elevated creatinine level of 1.0 mg/dL (88 μmol/L), a low albumin level of 1.8 g/dL (18 g/L), and normal liver enzyme levels. Stool testing for α₁-antitrypsin is elevated 20-fold. His electrolyte levels, urinalysis findings, coagulation markers, and inflammatory markers are normal. His chest radiograph shows a small right pleural effusion and no cardiomegaly. Based on his symptoms, presence of anasarca, and hypoalbuminemia with an elevated fecal α₁-antitrypsin level, he is admitted to an outside institution for further evaluation with a working diagnosis of protein-losing enteropathy (PLE). An echocardiogram demonstrates normal intracardiac anatomy and systolic function. His electrocardiogram shows sinus rhythm with diffuse low voltages and flat T waves (Fig 1A). In the setting of stool protein loss, a more extensive gastroenterologic evaluation is undertaken, which is normal. He is started empirically on prednisone therapy and a low-fat diet but requires standing …