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{{Polycythemia}}
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{{CMG}}; {{AE}} {{Debduti}}
== Overview ==


== Diagnostic Study of Choice ==
==Overview==
Diagnostic study of choice for [[polycythemia]] includes history and physical examination. Blood evaluation in association with [[genetic mutation]] study for relevant mutation. Imaging for [[splenomegaly]].


=== Study of choice ===
==Diagnostic Study of Choice==
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].


OR
===Study of choice===


The following result of [gold standard test] is confirmatory of [disease name]:
*The Polycythemia Vera Study Group (PVSG)  is considered to be the gold standard test for the diagnosis of [[polycythemia vera]]; however, it does not take into account [[bone marrow]] [[histopathology]].<ref name="pmid11830459">{{cite journal| author=Streiff MB, Smith B, Spivak JL| title=The diagnosis and management of polycythemia vera in the era since the Polycythemia Vera Study Group: a survey of American Society of Hematology members' practice patterns. | journal=Blood | year= 2002 | volume= 99 | issue= 4 | pages= 1144-9 | pmid=11830459 | doi=10.1182/blood.v99.4.1144 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11830459  }}</ref><ref name="pmid26568781">{{cite journal| author=Raedler LA| title=Diagnosis and Management of Polycythemia Vera: Proceedings from a Multidisciplinary Roundtable. | journal=Am Health Drug Benefits | year= 2014 | volume= 7 | issue= 7 Suppl 3 | pages= S36-47 | pmid=26568781 | doi= | pmc=4639938 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26568781  }}</ref><ref name="pmid15578448">{{cite journal |vauthors=Thiele J, Kvasnicka HM |title=Diagnostic impact of bone marrow histopathology in polycythemia vera (PV) |journal=Histol Histopathol |volume=20 |issue=1 |pages=317–28 |date=January 2005 |pmid=15578448 |doi=10.14670/HH-20.317 |url=}}</ref>
* [Result 1]
* [Result 2]


OR
*Clinical features that significantly differentiate primary vs secondary polycythemia are:
**[[Splenomegaly]], [[thrombocyte]] count, [[Lactate dehydrogenase|LDH]], LAP, and [[erythropoietin]]. <ref name="pmid11325641">{{cite journal |vauthors=Thiele J, Kvasnicka HM, Zankovich R, Diehl V |title=The value of bone marrow histology in differentiating between early stage Polycythemia vera and secondary (reactive) Polycythemias |journal=Haematologica |volume=86 |issue=4 |pages=368–74 |date=April 2001 |pmid=11325641 |doi= |url=}}</ref>


[Name of the investigation] must be performed when:
Diagnostic criteria for polycythemia vera:<ref name="pmid25832853">{{cite journal| author=Griesshammer M, Gisslinger H, Mesa R| title=Current and future treatment options for polycythemia vera. | journal=Ann Hematol | year= 2015 | volume= 94 | issue= 6 | pages= 901-10 | pmid=25832853 | doi=10.1007/s00277-015-2357-4 | pmc=4420843 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25832853  }}</ref>
* 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.


OR
*[[Janus kinase|JAK2]] positive [[polycythemia vera]]


[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
A1.[[Hematocrit]] >0.52 in men, >0.48 in women OR; [[Red blood cell|red cell]] mass >25% above predicted.
A2.[[Mutation]] in JAK2


OR
*Both criteria must be present for a diagnosis.


The diagnostic study of choice for [disease name] is [name of the investigation].
*[[Janus kinase|JAK2]] negative [[polycythemia vera]]


OR
A1. Increased [[Red blood cell|RBC]] mass >25% above predicted OR; Hct >0.60 in men and >0.56 in women.
A2.Absence of a [[Janus kinase|JAK2]] mutation.
A3.Absent secondary [[erythrocytosis]] causes. A4.[[Splenomegaly]] is palpable on physical examination. A5.Evidence of an acquired mutation (except [[BCR/ABL|BCR]]-ABL) in the [[hematopoietic]] cells.
B1.[[Thrombocytosis]] (>450 x 109)
B2. [[Neutropenia|Neutrophilic]] leukocytosis (>10 x 109 in smokers, >12.5 x 109 in non-smokers).
B3.Evidence of [[splenomegaly]] on imaging. B4.Reduced serum erythropoietin or colonies of endogenous [[erythroid]] cells.


There is no single diagnostic study of choice for the diagnosis of [disease name].
A1 + A2 + A3 plus either one more A or two B criteria must be present for diagnosis.  
 
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
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|}
<small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
 
===== Diagnostic results =====
The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
* [Finding 1]
* [Finding 2]
 
===== Sequence of Diagnostic Studies =====
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
 
The various investigations must be performed in the following order:
* [Initial investigation]
* [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 14:53, 4 March 2021

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Debduti Mukhopadhyay, M.B.B.S[2]

Overview

Diagnostic study of choice for polycythemia includes history and physical examination. Blood evaluation in association with genetic mutation study for relevant mutation. Imaging for splenomegaly.

Diagnostic Study of Choice

Study of choice

Diagnostic criteria for polycythemia vera:[5]

A1.Hematocrit >0.52 in men, >0.48 in women OR; red cell mass >25% above predicted. A2.Mutation in JAK2

  • Both criteria must be present for a diagnosis.

A1. Increased RBC mass >25% above predicted OR; Hct >0.60 in men and >0.56 in women. A2.Absence of a JAK2 mutation. A3.Absent secondary erythrocytosis causes. A4.Splenomegaly is palpable on physical examination. A5.Evidence of an acquired mutation (except BCR-ABL) in the hematopoietic cells. B1.Thrombocytosis (>450 x 109) B2. Neutrophilic leukocytosis (>10 x 109 in smokers, >12.5 x 109 in non-smokers). B3.Evidence of splenomegaly on imaging. B4.Reduced serum erythropoietin or colonies of endogenous erythroid cells.

A1 + A2 + A3 plus either one more A or two B criteria must be present for diagnosis.

References

  1. ↑ Streiff MB, Smith B, Spivak JL (2002). "The diagnosis and management of polycythemia vera in the era since the Polycythemia Vera Study Group: a survey of American Society of Hematology members' practice patterns". Blood. 99 (4): 1144–9. doi:10.1182/blood.v99.4.1144. PMID 11830459.
  2. ↑ Raedler LA (2014). "Diagnosis and Management of Polycythemia Vera: Proceedings from a Multidisciplinary Roundtable". Am Health Drug Benefits. 7 (7 Suppl 3): S36–47. PMC 4639938. PMID 26568781.
  3. ↑ Thiele J, Kvasnicka HM (January 2005). "Diagnostic impact of bone marrow histopathology in polycythemia vera (PV)". Histol Histopathol. 20 (1): 317–28. doi:10.14670/HH-20.317. PMID 15578448.
  4. ↑ Thiele J, Kvasnicka HM, Zankovich R, Diehl V (April 2001). "The value of bone marrow histology in differentiating between early stage Polycythemia vera and secondary (reactive) Polycythemias". Haematologica. 86 (4): 368–74. PMID 11325641.
  5. ↑ Griesshammer M, Gisslinger H, Mesa R (2015). "Current and future treatment options for polycythemia vera". Ann Hematol. 94 (6): 901–10. doi:10.1007/s00277-015-2357-4. PMC 4420843. PMID 25832853.

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