Abstract
The treatment and medical management of aplastic anemia fundamentally differ between patients with inherited versus acquired marrow failure; however, the diagnosis of an inherited bone marrow failure syndrome is frequently obscure. Recent exciting advances in our understanding of the molecular pathophysiology of the inherited bone marrow failure syndromes have resulted in a profusion of new tests to aid in diagnosis. This in turn has raised questions regarding the appropriate choice of testing for the patient presenting with aplastic anemia. Important clues to the diagnosis of an inherited marrow failure syndrome may be gleaned from careful attention to the clinical history, physical exam, and laboratory workup.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Adult
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Androgens / therapeutic use
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Anemia, Aplastic / blood
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Anemia, Aplastic / diagnosis
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Anemia, Aplastic / genetics
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Anemia, Aplastic / therapy
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Bone Marrow Diseases / blood
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Bone Marrow Diseases / diagnosis*
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Bone Marrow Diseases / genetics
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Bone Marrow Diseases / therapy
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Bone Marrow Examination
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Child
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Disease Management*
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Female
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Genetic Counseling
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Genomic Instability
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Hematopoietic Stem Cell Transplantation
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Humans
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Immunosuppressive Agents / therapeutic use
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Male
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Medical History Taking
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Models, Biological
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Molecular Diagnostic Techniques
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Neoplastic Syndromes, Hereditary / diagnosis
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Neoplastic Syndromes, Hereditary / therapy
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Physical Examination
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Pregnancy
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Transplantation, Homologous
Substances
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Androgens
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Immunosuppressive Agents