Aplastic Anemia - Overview Who? • M = F • 3 peaks: 1) Childhood 2) 15-25 years 3) >60 years What? • Aplastic anemia = Hypocellular bone marrow + pancytopenia Mechanisms: • Direct Damage to Marrow (Toxic injury to BM) • Constitutional Syndromes (specific loss-of-function germline mutations) • Immune Aplastic Anemia Clinical Presentation: • Fever • Fatigue • Lightheadedness • Dizziness • Irritability • Headaches • Pale skin color • Difficulty breathing • Neutropenia - recurrent infections/fevers • Thrombocytopenia - ecchymoses, mucosal bleeding, and petechiae Causes: • Constitutional Syndromes: - Genetic lesions that diminish the capacity for hematopoietic stem cells to repair DNA, as in Fanconi anemia, GATA2 deficiency, CTLA4 deficiency, Dyskeratosis congenita • Drugs: - Cytotoxic drugs/Chemotherapy - Antithyroid medications (methimazole and propylthiouracil) - β-lactam antibiotics - Sulfonamides - NSAIDs - Anticonvulsants - Gold salts • Chemical Agents: - Benzene • Physical Agents: - Radiation • Idiopathic • Infections: - Parvovirus B19 - EBV - CMV - HCV - HIV • Immune Aplastic Anemia: - Hepatitis, eosinophilic fasciitis, and thymoma DDX: • Inherited marrow-failure syndromes • Paroxysmal nocturnal hemoglobinuria • Hypocellular myelodysplastic syndrome (MDS) (normal or increased number of CD34+ cells) • Human immunodeficiency virus (HIV) • Parvovirus B19 • Mycobacteria • Cytomegalovirus (CMV) • Epstein-Barr virus (EBV) • Leukemia Hypocellular/Hypoplastic MDS: • ↓ bone marrow cellularity + dysplastic cells + cytogenetic abnormalities typical for MDS • Suggested by bone marrow with dysplastic megakaryocytes and a normal or increased number of CD34+ cells (not consistent with aplastic anemia) Labs: • Peripheral Pancytopenia: • ↓ RBC • ↓ WBC • ↓ PLT • Reticulocyte index < 2 • EPO Level ↑ • Marrow hypoplasia/fatty bone marrow • Number of CD34+ cells is much reduced in aplastic anemia Treatment: • Improve the symptoms that may result from low blood counts • Allogeneic HSCT for younger than 50 years who have a suitable match • Immunosuppression - cyclosporine and antithymocyte globulin #Aplastic #Anemia #oncology #hematology #diagnosis #management
