Aplastic anemia diagnostic study of choice: Difference between revisions
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== Overview == | == Overview == | ||
[[Bone marrow]] biopsy is the gold standard test for the diagnosis of aplastic anemia, These findings on performing bone marrow biopsy are confirmatory for aplastic anemia[[Hypoplasia]] with <20% cellularity, normal maturation of all [[cell]] line, fat cells and [[stroma]] in [[bone marrow]] space. Residual [[Hematopoietic cell|hematopoietic cells]] are morphologically normal [[Hematopoiesis|and hematopoiesis]] is not [[Megaloblastic anemia|megaloblastic]]. | |||
== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
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===== Sequence of Diagnostic Studies ===== | ===== Sequence of Diagnostic Studies ===== | ||
Investigations must be performed in the following order: | Investigations must be performed in the following order:<ref name="pmid12509764">{{cite journal |vauthors=D'Andrea AD, Grompe M |title=The Fanconi anaemia/BRCA pathway |journal=Nat. Rev. Cancer |volume=3 |issue=1 |pages=23–34 |date=January 2003 |pmid=12509764 |doi=10.1038/nrc970 |url=}}</ref> | ||
* '''In adults''' with AA, these tests should be done to detect coexistent disorders, such as paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome, or acute leukemia: | * '''In adults''' with AA, these tests should be done to detect coexistent disorders, such as paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome, or acute leukemia: | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nazia Fuad M.D.
Overview
Bone marrow biopsy is the gold standard test for the diagnosis of aplastic anemia, These findings on performing bone marrow biopsy are confirmatory for aplastic anemiaHypoplasia with <20% cellularity, normal maturation of all cell line, fat cells and stroma in bone marrow space. Residual hematopoietic cells are morphologically normal and hematopoiesis is not megaloblastic.
Diagnostic Study of Choice
Study of choice
Bone marrow biopsy is the gold standard test for the diagnosis of aplastic anemia[1]
Diagnostic results
The following findings on performing bone marrow biopsy are confirmatory for aplastic anemia:
- Hypoplasia with <20% cellularity
- Normal maturation of all cell line
- Fat cells and stroma in bone marrow space
- Residual hematopoietic cells are morphologically normal
- Hematopoiesis is not megaloblastic
Sequence of Diagnostic Studies
Investigations must be performed in the following order:[2]
- In adults with AA, these tests should be done to detect coexistent disorders, such as paroxysmal nocturnal hemoglobinuria, myelodysplastic syndrome, or acute leukemia:
- Flow cytometry for assessment of cell surface CD59 on peripheral blood red blood cells or neutrophils.
- Cytogenetic and molecular testing of bone marrow
- In children with AA genetic testing should be performed to find out inherited genetic abnormalities.
- Some are Fanconi anemia, dyskeratosis congenita and short telomere syndromes
References
- ↑ Dezern AE, Brodsky RA (April 2011). "Clinical management of aplastic anemia". Expert Rev Hematol. 4 (2): 221–30. doi:10.1586/ehm.11.11. PMC 3138728. PMID 21495931.
- ↑ D'Andrea AD, Grompe M (January 2003). "The Fanconi anaemia/BRCA pathway". Nat. Rev. Cancer. 3 (1): 23–34. doi:10.1038/nrc970. PMID 12509764.