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Acquired aplastic anemia in children and adolescents

Stanley L Schrier, MD
Alison A Bertuch, MD, PhD
Section Editor
Donald H Mahoney, Jr, MD
Deputy Editor
Jennifer S Tirnauer, MD


Aplastic anemia (AA) is a rare disorder characterized by pancytopenia and a hypocellular bone marrow [1,2]. Injury to or loss of pluripotent hematopoietic stem cells, in the absence of infiltrative disease of the bone marrow, is the major pathophysiologic characteristic of the disease [3]. In contrast, bone marrow failure is a more encompassing term that describes pancytopenia from a variety of different mechanisms, including bone marrow replacement by tumor or fibrosis, disordered cellular maturation (eg, vitamin B12 deficiency), and myelodysplasia, in which the stem cells are malignant and may be present in increased numbers but do not mature (table 1) [4]. In either condition, the associated neutropenia and thrombocytopenia can lead to potentially life-threatening infections and bleeding, respectively.

Acquired AA, characterized by pancytopenia and hypocellular bone marrow in the absence of abnormal infiltrates and without increased reticulin, accounts for most cases of AA in children and young adults (table 2). Acquired AA in children and young adults will be reviewed here [5,6]. Aplastic anemia in adults is reviewed separately. (See "Aplastic anemia: Pathogenesis; clinical manifestations; and diagnosis" and "Treatment of aplastic anemia in adults".)

The major constitutional or inherited causes of pancytopenia and AA in children include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and congenital amegakaryocytic thrombocytopenia. Diagnosis and treatment of these disorders are discussed separately. (See "Shwachman-Diamond syndrome" and "Inherited aplastic anemia in children and adolescents" and "Hematopoietic cell transplantation for idiopathic severe aplastic anemia and Fanconi anemia in children and adolescents".)


No clear cause can be determined in more than 70 percent of children with acquired aplastic anemia (AA). The major identifiable etiologies are exposure to a wide variety of drugs and chemicals, ionizing radiation, and some viruses (table 2). AA may also rarely complicate orthotopic liver transplantation; AA in this setting has a very poor outcome except in those patients who develop the disorder in the context of fulminant hepatic failure [7]. (See 'Hepatitis' below.) AA also has occurred in patients with other immune disorders such as systemic lupus erythematosus and, occasionally, in pregnancy [8,9].

In one study of 213 children <17 years of age with acquired severe AA (SAA) or very severe AA (vSAA) who underwent treatment with hematopoietic cell transplantation or immunosuppression, the following etiologies were noted [10] (see 'Definitions of severity' below):


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Literature review current through: Sep 2016. | This topic last updated: Nov 19, 2013.
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