title: The diagnosis and treatment of aplastic anemia: a review.
abstract: Aplastic anemia is a rare disorder characterized by suppression of bone marrow function resulting in progressive pancytopenia. A trigger-related abnormal T cell response facilitated by some genetic predisposition has been postulated as the pathogenetic mechanism leading to the overproduction of bone marrow-inhibiting cytokines. Immuno-mediated pathogenesis is confirmed by the response to immunosuppressive treatment (IST) (cyclosporin A+ATG), which represents the first-choice therapy for patients <40 years when a matched sibling donor (MSD) is not available for transplant. MSD hematopoietic stem cell transplantation (HSCT) is associated with cure in ~90 % of patients. IST up-front provides an overall survival (OS) rate of above 90 %, but a response rate of about 60 %. Front-line matched unrelated donor (MUD) appears to be a viable option in children with similar OS and event-free survival to that in MSD HSCT. MUD HSCT post-IST failure proved to be a very good rescue strategy. Haploidentical donors/cord blood transplants or alternative immunosuppressive therapies, such as alemtuzumab, may represent valid tools for resistant/relapsing cases. New promising strategies, such as eltrombopag, are now under investigation. Patients should be offered an accurate diagnostic work-up in order to rule out other underlying disorders, primarily constitutional marrow failures, which may require different approaches.
authors.affiliation: Clinical and Experimental Haematology Unit, G. Gaslini Children's Hospital, Largo G. Gaslini, 5, Genoa, 16148, Italy, mauriziomiano@ospedale-gaslini.ge.it.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Miano
authors.forename: Carlo
authors.initials: C
authors.lastname: Dufour
mesh_terms: D000741:Anemia, Aplastic / Q000175:diagnosis* / Q000628:therapy*; D001853:Bone Marrow / Q000473:pathology; D005312:Fetal Blood / Q000637:transplantation; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007167:Immunotherapy / Q000379:methods; D061349:Unrelated Donors
chemical_list: D007166:Immunosuppressive Agents
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