Aplastic anaemia.
Aplastic anaemia is a rare haemopoietic stem-cell disorder that results in pancytopenia and hypocellular bone marrow. Although most cases are acquired, there are unusual inherited forms. The pathophysiology of acquired aplastic anaemia is immune mediated in most cases; autoreactive lymphocytes mediate the destruction of haemopoietic stem cells. Environmental exposures, such as to drugs, viruses, and toxins, are thought to trigger the aberrant immune response in some patients, but most cases are classified as idiopathic. Similarly to other autoimmune diseases, aplastic anaemia has a varied clinical course; some patients have mild symptoms that necessitate little or no therapy, whereas others present with life-threatening pancytopenia representing a medical emergency. Paroxysmal nocturnal haemoglobinuria and myelodysplastic syndrome commonly arise in patients with aplastic anaemia, showing a pathophysiological link between these disorders. Acquired aplastic anaemia can be effectively treated by allogeneic bone-marrow transplantation, immunosuppression (generally antithymocyte globulin and ciclosporin), and high-dose cyclophosphamide.
Brodsky
Robert A
RA
Johns Hopkins University School of Medicine, Division of Hematology, and Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD, USA. brodsro@jhmi.edu
Jones
Richard J
RJ
D000741:Anemia, Aplastic / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy; D016026:Bone Marrow Transplantation; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use
D007166:Immunosuppressive Agents