Myeloproliferative Disorders – Top USMLE Diseases

Primary myelofibrosis (PMF) is a myeloproliferative neoplasm characterized by chronic myeloproliferation with nonclonal fibroblastic deposition, resulting in bone marrow fibrosis. The abnormality stems from genetic mutations of the hematopoietic stem cells (typically, JAK2 mutation). Primary symptoms are anemia and extramedullary hematopoiesis, which include severe fatigue, weight loss, and hepatosplenomegaly. Laboratory findings include anemia (and other cytopenias), and bone marrow biopsy reveals extensive fibrosis. Management is with hematopoietic stem cell transplantation and symptom-directed interventions.

Red blood cells perform an important function of supplying adequate oxygen to all tissues. Increased synthesis of these red blood cells, arising either de novo or secondary to other conditions, is called polycythemia. Read on to find out more about the different types of polycythemia and how they may present.