Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 10)

Definition and Differential Diagnosis PRCA is characterized by anemia, reticulocytopenia, and absent or rare erythroid precursor cells in the bone marrow. The classification of PRCA is shown in Table 102-4. In adults, PRCA is acquired. An identical syndrome can occur constitutionally: Diamond-Blackfan anemia, or congenital PRCA, is diagnosed at birth or in early childhood and often responds to glucocorticoid treatment; a minority of patients have etiologic mutations in a ribosomal RNA processing gene called RPS19. Temporary red cell failure occurs in transient aplastic crisis of hemolytic anemias due to acute parvovirus infection (Chap. 177) and in transient erythroblastopenia of...
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Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 10) Chapter 102. Aplastic Anemia, Myelodysplasia, and Related Bone Marrow Failure Syndromes (Part 10) Definition and Differential Diagnosis PRCA is characterized by anemia, reticulocytopenia, and absent or rareerythroid precursor cells in the bone marrow. The classification of PRCA is shownin Table 102-4. In adults, PRCA is acquired. An identical syndrome can occurconstitutionally: Diamond-Blackfan anemia, or congenital PRCA, is diagnosed atbirth or in early childhood and often responds to glucocorticoid treatment; aminority of patients have etiologic mutations in a ribosomal RNA processing genecalled RPS19. Temporary red cell failure occurs in transient aplastic crisis ofhemolytic anemias due to acute parvovirus infection (Chap. 177) and in transienterythroblastopenia of childhood, which affects normal children. Table 102-4 Classification of Pure Red Cell AplasiaSelf-limited Transient erythroblastopenia of childhood Transient aplastic crisis of hemolysis (acute B19 parvovirus infection)Fetal red blood cell aplasia Nonimmune hydrops fetalis (in utero B19 parvovirus infection)Hereditary pure red cell aplasia Congenital pure red cell aplasia (Diamond-Blackfan syndrome)Acquired pure red cell aplasia Thymoma and malignancy Thymoma Lymphoid malignancies (and more rarely other hematologic diseases) Paraneoplastic to solid tumors Connective tissue disorders with immunologic abnormalities Systemic lupus erythematosus, juvenile rheumatoid arthritis, rheumatoidarthritis Multiple endocrine gland insufficiency Virus Persistent B19 parvovirus, hepatitis, adult T cell leukemia virus, Epstein-Barr virus Pregnancy Drugs Especially phenytoin, azathioprine, chloramphenicol, procainamide,isoniazid Erythropoietin Idiopathic Clinical Associations and Etiology PRCA has important associations with immune system diseases. A smallminority of cases occur with a thymoma. More frequently, red cell aplasia can bethe major manifestation of large granular lymphocytosis or may occur in chroniclymphocytic leukemia. Some patients may be hypogammaglobulinemic. As withagranulocytosis, PRCA can be due to an idiosyncratic reaction to a drug.Subcutaneous administration of erythropoietin can lead to PRCA mediated byneutralizing antibodies. Like aplastic anemia, PRCA results from diverse mechanisms. Antibodiesto red blood cell precursors are frequently present in the blood, but T cellinhibition is probably the more common immune mechanism. Cytotoxiclymphocyte activity restricted by histocompatibility locus or specific for human Tcell leukemia/lymphoma virus I–infected cells, as well as natural killer cellactivity inhibitory of erythropoiesis, have been demonstrated in particularly well-studied individual cases.