Part 1: Aplastic Anemia
Gabrielle Meyers, MD
Assistant Professor of Medicine, Center for Hematologic Malignancies, Oregon Health and Science University, Portland, OR.
Question 1
A 34-year-old man with newly discovered pancytopenia presents for evaluation. He had been healthy until the last 3 to 6 months, when he has noted a decline in his energy and easier bruising. He has had no infectious symptoms and has had no other bleeding complications. He takes no medications, herbal products, or over-the-counter products. He has always been healthy, with no medical problems, and does not use tobacco or illicit drugs, rarely uses alcohol, and has never had high-risk sexual encounters. He is currently working for a computer software company. He has no siblings and his family history is notable for a maternal grandfather with type 2 diabetes and heart disease. Results of laboratory studies are as follows: white cell count (WBC), 3600 cells/µL; hemoglobin, 9.3 g/dL; platelet count, 24,000 cells/µL; WBC differential, 32% segmented neutrophils, 64% lymphocytes, 4% monocytes. A serum chemistry panel shows normal liver function tests, electrolytes, and renal function and a slightly elevated lactate dehydrogenase level at 220 U/L. The patient undergoes a bone marrow biopsy, which finds a hypocellular marrow at 40% cellularity, with no evidence of dyspoiesis or elevated blast count. Karyotyping reveals no abnormalities, with a fluorescent in situ hybridization (FISH) panel for myelodysplastic syndrome finding no abnormalities on chromosomes 5, 7, 8, or 20.
What is the diagnosis for this patient?
