Paroxysmal nocturnal hemoglobinuria diagnostic study of choice: Difference between revisions

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{{Paroxysmal nocturnal hemoglobinuria}}
{{Paroxysmal nocturnal hemoglobinuria}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}} {{AEL}}  
== Overview ==
== Overview ==
Diagnosis of paroxysmal nocturnal hemoglobinuria has a minimal essential diagnostic criteria. The diagnostic test of choice is [[flow cytometry]]. The flow cytometry is used in order to reveal the [[GPI anchor|GPI]] deficient [[RBCs]].


== Diagnostic Study of Choice ==
== Diagnostic Study of Choice ==
 
=== Minimal essential diagnostic criteria  ===
=== Study of choice ===
* Diagnosis of paroxysmal nocturnal hemoglobinuria is based on the minimal essential diagnostic criteria. The main diagnostic test for this criteria is [[flow cytometry]].<ref name="pmid16051736">{{cite journal| author=Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R et al.| title=Diagnosis and management of paroxysmal nocturnal hemoglobinuria. | journal=Blood | year= 2005 | volume= 106 | issue= 12 | pages= 3699-709 | pmid=16051736 | doi=10.1182/blood-2005-04-1717 | pmc=1895106 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16051736  }}</ref>
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
* The flow cytometry approach is used to reveal the deficiency of [[GPI anchor]] on the [[RBCs]].  
 
* Other measures used in the diagnostic criteria include the folllowing:
OR
** Assessment of the [[hemolytic]] parameters
 
** [[Bone marrow]] examination
The following result of [gold standard test] is confirmatory of [disease name]:
* Supporting tests are included also in order to detect the PNH category. Below tables conclude both supporting tests and categories of PNH.<ref name="pmid21707954">{{cite journal| author=Pu JJ, Brodsky RA| title=Paroxysmal nocturnal hemoglobinuria from bench to bedside. | journal=Clin Transl Sci | year= 2011 | volume= 4 | issue= 3 | pages= 219-24 | pmid=21707954 | doi=10.1111/j.1752-8062.2011.00262.x | pmc=3128433 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21707954  }}</ref>
* [Result 1]
{| class="wikitable"
* [Result 2]
|+
 
!Category of PNH
OR
!Characteristics
 
|-
[Name of the investigation] must be performed when:
|1- Classic PNH
* The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
|
* A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.
* [[Hemolysis|Intravascular hemolysis]] evident
 
* No another [[bone marrow]] disorder
OR
* Bone marrow morphology is normal with [[erythroid]] [[hyperplasia]]
 
* No karyotype abnormality
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
 
OR
 
The diagnostic study of choice for [disease name] is [name of the investigation].
 
OR
 
There is no single diagnostic study of choice for the diagnosis of [disease name].
 
OR
 
There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
 
OR
 
[Disease name] is primarily diagnosed based on the clinical presentation.
 
OR
 
Investigations:
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.
 
==== The comparison of various diagnostic studies for [disease name] ====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
|-
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
|2- PNH in the setting of another specified bone marrow disorder
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
* Intravascular hemolysis evident
* History of defined bone marrow abnormality
* This category used to determine if the PNH is secondary to [[aplastic anemia]] or [[myelodysplastic syndrome]]
* A [[chromosomal]] abnormality may be associated with myelodysplastic syndrome
|-
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
|3- Subclinical PNH
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
* No evidence of hemolysis
* Patients with subclinical PNH are detected by the [[Flow cytometry|flow cytometric analysis]]
* Mostly associated with bone marrow failure
|}
|}
<small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
{| class="wikitable"
|+
!Supporting approaches
|-
|1- Obtaining the history of symptoms of hemoglobinuria, thromboembolic disease, dysphagia, and abdominal pain.
2- Identifying the proportion of the PNH I, PNH II, and PNH III erythrocytes by the flow cytometric analysis


===== Diagnostic results =====
3- Identifying the proportion of the GPI deficient blood cells
The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
* [Finding 1]
* [Finding 2]


===== Sequence of Diagnostic Studies =====
4- Serum Iron levels
The [name of investigation] must be performed when:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
* A positive [test] is detected in the patient, to confirm the diagnosis.


OR
5- Kidney function tests


The various investigations must be performed in the following order:
6- Serum level of erythropoietin
* [Initial investigation]
* [2nd investigation]


=== Name of Diagnostic Criteria ===
7- Urine hemosiderin


'''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.'''
8- HLA class identification
 
|}
[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 16:32, 8 November 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview

Diagnosis of paroxysmal nocturnal hemoglobinuria has a minimal essential diagnostic criteria. The diagnostic test of choice is flow cytometry. The flow cytometry is used in order to reveal the GPI deficient RBCs.

Diagnostic Study of Choice

Minimal essential diagnostic criteria

  • Diagnosis of paroxysmal nocturnal hemoglobinuria is based on the minimal essential diagnostic criteria. The main diagnostic test for this criteria is flow cytometry.[1]
  • The flow cytometry approach is used to reveal the deficiency of GPI anchor on the RBCs.
  • Other measures used in the diagnostic criteria include the folllowing:
  • Supporting tests are included also in order to detect the PNH category. Below tables conclude both supporting tests and categories of PNH.[2]
Category of PNH Characteristics
1- Classic PNH
2- PNH in the setting of another specified bone marrow disorder
  • Intravascular hemolysis evident
  • History of defined bone marrow abnormality
  • This category used to determine if the PNH is secondary to aplastic anemia or myelodysplastic syndrome
  • A chromosomal abnormality may be associated with myelodysplastic syndrome
3- Subclinical PNH
  • No evidence of hemolysis
  • Patients with subclinical PNH are detected by the flow cytometric analysis
  • Mostly associated with bone marrow failure
Supporting approaches
1- Obtaining the history of symptoms of hemoglobinuria, thromboembolic disease, dysphagia, and abdominal pain.

2- Identifying the proportion of the PNH I, PNH II, and PNH III erythrocytes by the flow cytometric analysis

3- Identifying the proportion of the GPI deficient blood cells

4- Serum Iron levels

5- Kidney function tests

6- Serum level of erythropoietin

7- Urine hemosiderin

8- HLA class identification

References

  1. ↑ Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R; et al. (2005). "Diagnosis and management of paroxysmal nocturnal hemoglobinuria". Blood. 106 (12): 3699–709. doi:10.1182/blood-2005-04-1717. PMC 1895106. PMID 16051736.
  2. ↑ Pu JJ, Brodsky RA (2011). "Paroxysmal nocturnal hemoglobinuria from bench to bedside". Clin Transl Sci. 4 (3): 219–24. doi:10.1111/j.1752-8062.2011.00262.x. PMC 3128433. PMID 21707954.

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