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{{Aplastic anemia}}
{{Aplastic anemia}}
{{CMG}}; {{AE}}
{{CMG}} {{shyam}}; {{AE}}  {{N.F}}
== Overview ==
== Overview ==
The [[bone marrow]] biopsy is the gold standard test for the diagnosis of aplastic anemia. A hematopathologist will review the bone marrow biopsy findings, and confirmatory results for aplastic anemia include [[hypoplasia]] with <20% cellularity, normal maturation of all [[cell]] lines, presence of fat cells and [[stroma]] in [[bone marrow]] space. Residual [[hematopoietic cell|hematopoietic cells]] are morphologically normal. [[Hematopoiesis]] is not [[megaloblastic]].


== Diagnostic Study of Choice ==
== Diagnostic Study of Choice ==


=== Study of choice ===
=== Study of choice ===
[[Bone marrow]] biopsy is the gold standard test for the diagnosis of aplastic anemia
The [[bone marrow]] biopsy is the gold standard test for the diagnosis of aplastic anemia<ref name="pmid21495931">{{cite journal |vauthors=Dezern AE, Brodsky RA |title=Clinical management of aplastic anemia |journal=Expert Rev Hematol |volume=4 |issue=2 |pages=221–30 |date=April 2011 |pmid=21495931 |pmc=3138728 |doi=10.1586/ehm.11.11 |url=}}</ref>


===== Diagnostic results =====
===== Diagnostic results =====
The following findings on performing bone marrow biopsy are confirmatory for aplastic anemia:
The following findings on performing bone marrow biopsy are confirmatory for aplastic anemia:
* Hypoplasia with <20% cellularity
* [[Hypoplasia]] with <20% cellularity
* Normal maturation of all [[cell]] lines
* Normal maturation of all [[cell]] lines
* Presence of adipose cells and [[stroma]] in [[bone marrow]] space
* Presence of morphologically normal residual [[hematopoietic cells]]
* Absence of [[megaloblastic]] [[hematopoiesis]]


===== Sequence of Diagnostic Studies =====
===== Sequence of diagnostic studies =====
The [name of investigation] must be performed when:
* '''In adults''' with aplastic anemia, these tests should be done to detect coexistent disorders, such as [[paroxysmal nocturnal hemoglobinuria]], [[myelodysplastic syndrome|myelodysplastic syndrome,]] or [[acute leukemia]]<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>:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
** [[Flow cytometry]] for assessment of cell surface CD59 on peripheral blood red blood cells or [[neutrophil|neutrophils]].  
* A positive [test] is detected in the patient, to confirm the diagnosis.
** [[Cytogenetics|Cytogenetic]] and molecular testing of [[bone marrow]]
** Hemoglobin electrophoresis and blood-group testing
** Serology
** Fluorescence-activated cell sorter (FACS) profiling
** Fluorescent-labeled inactive toxin aerolysin (FLAER) testing
** Diepoxybutane incubation
** Histocompatibility testing


OR
* '''In children''' with aplastic anemia, genetic testing should be performed to find out inherited genetic abnormalities.
 
** [[Fanconi anemia]]
The various investigations must be performed in the following order:
** [[Dyskeratosis congenita]]
* [Initial investigation]
** [[Short telomere]] syndromes
* [2nd investigation]
 
=== Name of Diagnostic Criteria ===
 
'''It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.'''
 
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
 
OR
 
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
 
OR
 
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
* Criteria 1
* Criteria 2
* Criteria 3
 
OR
 
'''IF there are clear, established diagnostic criteria'''
 
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
'''IF there are no established diagnostic criteria'''
 
There are no established criteria for the diagnosis of [disease name].


==References==
==References==

Latest revision as of 00:24, 3 December 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Nazia Fuad M.D.

Overview

The bone marrow biopsy is the gold standard test for the diagnosis of aplastic anemia. A hematopathologist will review the bone marrow biopsy findings, and confirmatory results for aplastic anemia include hypoplasia with <20% cellularity, normal maturation of all cell lines, presence of fat cells and stroma in bone marrow space. Residual hematopoietic cells are morphologically normal. Hematopoiesis is not megaloblastic.

Diagnostic Study of Choice

Study of choice

The 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:

Sequence of diagnostic studies

References

  1. ↑ 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.
  2. ↑ 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.

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