TY - CHAP M1 - Book, Section TI - Aplastic Anemia, Bone Marrow Failure Syndromes A1 - Calado, Rodrigo A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Aplastic anemia (AA) is the prototypic disease of hematopoietic stem cell failure. It is characterized by an empty bone marrow resulting in low peripheral blood cell counts (pancytopenia).AA can be acquired or inherited. Most common types of inherited AA are Fanconi anemia, dyskeratosiscongenita, and Shwachman-Diamond syndrome.Acquired AA is an immune-mediated condition in which activated type-1 cytotoxic T cells target hematopoietic stem and progenitor cells in the marrow.Whereas congenital AA is more frequent in the first and second decades of life and is associated with physical abnormalities (café-au-lait spots, hyperpigmentation, short stature, abnormal thumbs in Fanconi anemia; nail dystrophy, leukoplakia, and reticular hyperpigmentation in dyskeratosiscongenita; and exocrine pancreatic insufficiency in Shwachman-Diamond syndrome), the incidence of acquired AA is bimodal, peaking in adolescence (15 years) and greater than 50 years and physical anomalies are absent.Differential diagnosis:Other causes of pancytopenia must be excluded: acute leukemia, myelodysplastic syndrome, pernicious anemia, bone marrow infiltration by other neoplasias.It is not uncommon that a constitutional type of aplastic anemia to manifest without the usual clinical findings. Thus, it is necessary to perform ancillary diagnostic tests for the differential diagnosis of inherited bone marrow failure syndromes (Table 33-1), especially in children. Chromosome breakage test is routinely performed for the diagnosis of Fanconi anemia and telomere length measurement for the diagnosis of dyskeratosis congenita. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102699872 ER -