A Previously Healthy Teenager with Anasarca.

1. Justin H. Berger, MD, PhD* 2. Andrea Jones, MD* 3. Nina Fainberg, MD† 4. Christopher Smith, MD, PhD* 5. Chitra Ravishankar, MD* 1. *Division of Cardiology and 2. †Department of Pediatrics, The Children’s Hospital of Philadelphia, Philadelphia, PA A 16-year-old boy with no chronic medical problems presents with several weeks of progressive lower extremity edema, facial swelling, and dyspnea on exertion, accompanied by several daily episodes of loose, nonbloody stools. There is no history of fever, upper respiratory tract symptoms, abdominal pain or nausea, joint pain, eye pain or blurry vision, rashes, or ulcers. He does have a history of facial acne for which he had previously taken isotretinoin. There has been no recent travel. On physical examination, vital signs are normal. He appears tired but in no acute distress. There is decreased aeration at both lung bases, no audible murmurs or gallops, a distended and nontender abdomen, and marked lower extremity and periorbital edema. 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 …