Cases from the Osler Medical Service at Johns Hopkins University

Presenting features A 53-year-old African American woman with a past medical history of menorrhagia was admitted to The Johns Hopkins Hospital for dyspnea that had worsened over the past several months. During this time, she noticed increasing breathlessness with activity, as well as occasional dark stools and a craving for ice chips. Initially, she had dyspnea with ambulation, but in the weeks leading up to admission she began to struggle with activities of daily living, including dressing herself and brushing her hair. By the day of admission, she complained of shortness of breath at rest. She denied fever, chest discomfort, orthopnea, paroxysmal nocturnal dyspnea, presyncope, syncope, hematemesis, or bright red blood per rectum. On physical examination, the patient appeared dyspneic and fatigued. She was tachycardic with a wide pulse pressure and bounding peripheral pulses. She was not orthostatic. There was prominent conjunctival pallor. Her precordium was hyperdynamic. The lungs were clear to auscultation without rales or fine inspiratory crackles. Her nail beds were normal, but palmar creases were not seen on her hands. She had 2+ bilateral lower extremity pitting edema up to her thighs. Rectal examination revealed guaiac-negative stool. Laboratory analysis revealed the following: hemoglobin, 2.7 g/dL; hematocrit, 11%; mean corpuscular volume, 62.3 fL; red cell distribution width, 24.8%; absolute reticulocyte count, 37.6 K/mm3; and albumin, 3.0 g/dL. The patientʹs serum iron level was 14 μg/dL and her saturation iron was 3%, consistent with iron deficiency anemia. A peripheral blood smear showed microcytosis, anisocytosis, and hypochromia. Serum levels of aminotransferases, thyroid-stimulating hormone, vitamin B12, folate, haptoglobin, lactate dehydrogenase, and antiendomysial antibody were normal, as were CD59 expression and a thalassemia screen. A chest radiograph revealed clear lung fields without infiltrates, and an electrocardiogram showed normal sinus rhythm without low voltage. Echocardiography revealed a hyperdynamic left ventricle with an ejection fraction of 75%, consistent with high output. What is the diagnosis?