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! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutational causes
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutational causes
! align="center" style="background:#DCDCDC;" |[[Polycythemia vera]] (PV)<ref name="SteinOh2015">{{cite journal|last1=Stein|first1=Brady L.|last2=Oh|first2=Stephen T.|last3=Berenzon|first3=Dmitriy|last4=Hobbs|first4=Gabriela S.|last5=Kremyanskaya|first5=Marina|last6=Rampal|first6=Raajit K.|last7=Abboud|first7=Camille N.|last8=Adler|first8=Kenneth|last9=Heaney|first9=Mark L.|last10=Jabbour|first10=Elias J.|last11=Komrokji|first11=Rami S.|last12=Moliterno|first12=Alison R.|last13=Ritchie|first13=Ellen K.|last14=Rice|first14=Lawrence|last15=Mascarenhas|first15=John|last16=Hoffman|first16=Ronald|title=Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery ofJAK2 V617F|journal=Journal of Clinical Oncology|volume=33|issue=33|year=2015|pages=3953–3960|issn=0732-183X|doi=10.1200/JCO.2015.61.6474}}</ref>   
! align="center" style="background:#DCDCDC;" |[[Polycythemia vera]] (PV)<ref name="SteinOh2015">{{cite journal|last1=Stein|first1=Brady L.|last2=Oh|first2=Stephen T.|last3=Berenzon|first3=Dmitriy|last4=Hobbs|first4=Gabriela S.|last5=Kremyanskaya|first5=Marina|last6=Rampal|first6=Raajit K.|last7=Abboud|first7=Camille N.|last8=Adler|first8=Kenneth|last9=Heaney|first9=Mark L.|last10=Jabbour|first10=Elias J.|last11=Komrokji|first11=Rami S.|last12=Moliterno|first12=Alison R.|last13=Ritchie|first13=Ellen K.|last14=Rice|first14=Lawrence|last15=Mascarenhas|first15=John|last16=Hoffman|first16=Ronald|title=Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery ofJAK2 V617F|journal=Journal of Clinical Oncology|volume=33|issue=33|year=2015|pages=3953–3960|issn=0732-183X|doi=10.1200/JCO.2015.61.6474}}</ref>   
| align="center" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* Autonomous erythrocyte production
* Autonomous erythrocyte production
| align="center" style="background:#F5F5F5;" |JAK2 mutation > 95%
| align="center" style="background:#F5F5F5;" |JAK2 mutation > 95%
|Mean age >60 years old
| align="center" style="background:#F5F5F5;" | Mean age >60 years old
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| +
| align="center" style="background:#F5F5F5;" | +/-
| align="center" style="background:#F5F5F5;" | +/-
| align="left" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
Line 62: Line 62:
* Visual disturbance
* Visual disturbance
| align="center" style="background:#F5F5F5;" |Facial plethora
| align="center" style="background:#F5F5F5;" |Facial plethora
|Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
|↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* Painful erythema
* Painful erythema
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* [[Lymphadenopathy]]
* [[Lymphadenopathy]]
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↑
Line 75: Line 75:
| align="center" style="background:#F5F5F5;" |Nl to ↑
| align="center" style="background:#F5F5F5;" |Nl to ↑
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* Elevated normochromic, normocytic [[Red blood cell|RBCs]]
* Elevated normochromic, normocytic [[Red blood cell|RBCs]]
* [[Thrombocytosis]]  
* [[Thrombocytosis]]  
* Rarely immature cells  
* Rarely immature cells  
* Leukoerythroblastic picture
* Leukoerythroblastic picture
| align="left" style="background:#F5F5F5;" |WHO criteria for PV
| align="center" style="background:#F5F5F5;" |WHO criteria for PV
| align="left" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* [[Stroke]]
* [[Stroke]]
Line 88: Line 88:
|-
|-
! align="center" style="background:#DCDCDC;" |Chuvash polycythemia<ref name="ZhouKnoche2016">{{cite journal|last1=Zhou|first1=Amy W.|last2=Knoche|first2=Eric M.|last3=Engle|first3=Elizabeth K.|last4=Ban-Hoefen|first4=Makiko|last5=Kaiwar|first5=Charu|last6=Oh|first6=Stephen T.|title=Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia|journal=New England Journal of Medicine|volume=375|issue=5|year=2016|pages=494–496|issn=0028-4793|doi=10.1056/NEJMc1600337}}</ref>
! align="center" style="background:#DCDCDC;" |Chuvash polycythemia<ref name="ZhouKnoche2016">{{cite journal|last1=Zhou|first1=Amy W.|last2=Knoche|first2=Eric M.|last3=Engle|first3=Elizabeth K.|last4=Ban-Hoefen|first4=Makiko|last5=Kaiwar|first5=Charu|last6=Oh|first6=Stephen T.|title=Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia|journal=New England Journal of Medicine|volume=375|issue=5|year=2016|pages=494–496|issn=0028-4793|doi=10.1056/NEJMc1600337}}</ref>
!Hypoxia-sensing disorder
| align="center" style="background:#F5F5F5;" | Hypoxia-sensing disorder
!VHL mutation
| align="center" style="background:#F5F5F5;" | VHL mutation
!Russia, Italy
| align="center" style="background:#F5F5F5;" | Russia, Italy
<40 years old
<40 years old
| +
| align="center" style="background:#F5F5F5;" |  +
| +
| align="center" style="background:#F5F5F5;" | +
| +
| align="center" style="background:#F5F5F5;" | +
| +/-
| align="center" style="background:#F5F5F5;" | +/-
|
| align="left" style="background:#F5F5F5;" |  
* [[Arthralgia]]
* [[Arthralgia]]
!
| align="left" style="background:#F5F5F5;" |
* [[Pruritis]]
* [[Pruritis]]
* Dizziness
* Dizziness
|Facial plethora
| align="center" style="background:#F5F5F5;" | Facial plethora
|↓
| align="center" style="background:#F5F5F5;" | ↓
| -
| align="center" style="background:#F5F5F5;" | -
|↑
| align="center" style="background:#F5F5F5;" | ↑
|
| align="left" style="background:#F5F5F5;" |  
* Painful erythema
* Painful erythema
| +
| align="center" style="background:#F5F5F5;" | +
|
| align="left" style="background:#F5F5F5;" |  
* [[Lymphadenopathy]]
* [[Lymphadenopathy]]
|↑
| align="center" style="background:#F5F5F5;" | ↑
|↑
| align="center" style="background:#F5F5F5;" | ↑
!Nl
| align="center" style="background:#F5F5F5;" | Nl
!Nl
| align="center" style="background:#F5F5F5;" | Nl
|↑
| align="center" style="background:#F5F5F5;" | ↑
!
| align="left" style="background:#F5F5F5;" |
* Elevated normochromic, normocytic [[Red blood cell|RBCs]]
* Elevated normochromic, normocytic [[Red blood cell|RBCs]]
!Molecular genetic testing
| align="center" style="background:#F5F5F5;" | Molecular genetic testing
!
| align="left" style="background:#F5F5F5;" |
* Multiple thrombotic events
* Multiple thrombotic events
|-
|-
! align="center" style="background:#DCDCDC;" |Hereditary [[methemoglobinemia]]<ref name="pmid12897322">{{cite journal |vauthors=Da-Silva SS, Sajan IS, Underwood JP |title=Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report |journal=Pediatrics |volume=112 |issue=2 |pages=e158–61 |date=August 2003 |pmid=12897322 |doi= |url=}}</ref>
! align="center" style="background:#DCDCDC;" |Hereditary [[methemoglobinemia]]<ref name="pmid12897322">{{cite journal |vauthors=Da-Silva SS, Sajan IS, Underwood JP |title=Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report |journal=Pediatrics |volume=112 |issue=2 |pages=e158–61 |date=August 2003 |pmid=12897322 |doi= |url=}}</ref>
!
| align="left" style="background:#F5F5F5;" |
* Cytochrome b5 reductase deficiency
* Cytochrome b5 reductase deficiency
* Hemoglobin M disease
* Hemoglobin M disease
!Mutations in globin gene
| align="center" style="background:#F5F5F5;" | Mutations in globin gene
!Infants
| align="center" style="background:#F5F5F5;" | Infants
!+/-
| align="center" style="background:#F5F5F5;" | +/-
!+/-
| align="center" style="background:#F5F5F5;" | +/-
!+/-
| align="center" style="background:#F5F5F5;" | +/-
!-
| align="center" style="background:#F5F5F5;" | -
!-
| align="center" style="background:#F5F5F5;" | -
!-
| align="center" style="background:#F5F5F5;" | -
|[[Cyanosis]]
| align="center" style="background:#F5F5F5;" | [[Cyanosis]]
!Inaccurately Nl
| align="center" style="background:#F5F5F5;" | Inaccurately Nl
!-
| align="center" style="background:#F5F5F5;" | -
!Nl
| align="center" style="background:#F5F5F5;" | Nl
!-
| align="center" style="background:#F5F5F5;" | -
!-
| align="center" style="background:#F5F5F5;" | -
!Altered mental status
| align="center" style="background:#F5F5F5;" | Altered mental status
|↑
| align="center" style="background:#F5F5F5;" | ↑
|↑
| align="center" style="background:#F5F5F5;" | ↑
!Nl
| align="center" style="background:#F5F5F5;" | Nl
!Nl
| align="center" style="background:#F5F5F5;" | Nl
!Nl
| align="center" style="background:#F5F5F5;" | Nl
!NA
| align="center" style="background:#F5F5F5;" | NA
!RBC enzyme activity + DNA analysis  
| align="center" style="background:#F5F5F5;" | RBC enzyme activity + DNA analysis  
!
| align="left" style="background:#F5F5F5;" |
* Usually asymptomatic
* Usually asymptomatic
|-
|-

Revision as of 20:22, 21 August 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Sadaf Sharfaei M.D.[2]

Overview

Differential Diagnosis of Polycythemia

Polycythemia must be differentiated from a variety of other conditions.[1][2][3]

Category Disease Etiology Mutation Clinical manifestations Laboratory findings Gold standard disgnosis Associated findings
Demography Symptoms Signs CBC EPO level PBS
Fatigue Headache Shortness of breath Bleeding Pain Other symptoms Appearance SaO2 Fever BP Tenderness Splenomegaly Other signs Hb RBC WBC Plt
Mutational causes Polycythemia vera (PV)[4]
  • Autonomous erythrocyte production
 JAK2 mutation > 95% Mean age >60 years old + + + +/- Facial plethora Nl - ↑
  • Painful erythema
 + ↑ ↑ RBC mass Nl to ↑ Nl to ↑ ↓
  • Elevated normochromic, normocytic RBCs
  • Thrombocytosis
  • Rarely immature cells
  • Leukoerythroblastic picture
 WHO criteria for PV
Chuvash polycythemia[5] Hypoxia-sensing disorder VHL mutation Russia, Italy

<40 years old

+ + + +/- Facial plethora ↓ - ↑
  • Painful erythema
 + ↑ ↑ Nl Nl ↑
  • Elevated normochromic, normocytic RBCs
 Molecular genetic testing
  • Multiple thrombotic events
Hereditary methemoglobinemia[6]
  • Cytochrome b5 reductase deficiency
  • Hemoglobin M disease
 Mutations in globin gene Infants +/- +/- +/- - - - Cyanosis Inaccurately Nl - Nl - - Altered mental status ↑ ↑ Nl Nl Nl NA RBC enzyme activity + DNA analysis
  • Usually asymptomatic
Primary familial and congenital polycythemia[7] Autosomal dominant inheritance EPOR mutation Very rare + + +/- - - - Facial plethora - Nl to ↑ - - Altered mental status ↑ ↑ Nl Nl Nl to ↓ NA Isolated erythrocytosis + genetic testing
  • Mild manifestations of hyperviscosity
Category Disease Etiology Mutation Demography Fatigue Headache Shortness of breath Bleeding Pain Other symptoms Appearance SaO2 Fever BP Tenderness Splenomegaly Other signs Hb RBC WBC Plt EPO level PBS Gold standard diagnosis Associated findings
Iatrogenic causes Smoking
  • Reduced plasma volume
 - Any - - + - - - Cyanosis ↓ - Nl - - - ↑ ↑ Nl Nl Nl to ↓ NA Clinical manifestation NA
Chronic exposure to carbon monoxide
  • Occupational exposure
 - Miners, fire fighters + + + - -
  • Dizziness
  • Headache
  • Altered cognition
 Cyanosis ↓ - Nl - - - ↑ ↑ Nl Nl Nl to ↓ NA Blood level of carboxyhemoglobin NA
Diuretics
Use of androgens or anabolic steroids
  • Doping in athletes
Self-injection of erythropoietin
  • Doping in athletes
Secondary causes Secondary polycythemia due to hypoxemia - Depends on etiology + + + - Depends on etiology Cyanosis ↓ - Nl to ↑ - - ↑ ↑ Nl Nl ↑ NA Clinical manifestation + imaging
  • Variable manifestations given the diverse etiologies
Secondary polycythemia due to erythropoietin producing tumor - Depends on etiology + - - - Depends on etiology Depends on etiology Chronically ill Nl +/- Nl to ↑ +/- +/- ↑/↓ ↑/↓ Nl ↑ ↑ NA Clinical manifestation + imaging
  • Variable manifestations given the diverse etiologies
Hereditary hemorrhagic telangiectasia Pulmonary arteriovenous malformations ↑/↓ ↑/↓
Category Disease Etiology Mutation Demography Fatigue Headache Shortness of breath Bleeding Pain Other symptoms Appearance SaO2 Fever BP Tenderness Splenomegaly Other signs Hb RBC WBC Plt EPO level PBS Gold standard diagnosis Associated findings

References

  1. ↑ Tefferi A, Barbui T (2015). "Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management". Am J Hematol. 90 (2): 162–73. doi:10.1002/ajh.23895. PMID 25611051.
  2. ↑ Sanchez S, Ewton A (2006). "Essential thrombocythemia: a review of diagnostic and pathologic features". Arch Pathol Lab Med. 130 (8): 1144–50. doi:10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2. PMID 16879015.
  3. ↑ Jabbour E, Kantarjian H (2014). "Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management". Am J Hematol. 89 (5): 547–56. doi:10.1002/ajh.23691. PMID 24729196.
  4. ↑ Stein, Brady L.; Oh, Stephen T.; Berenzon, Dmitriy; Hobbs, Gabriela S.; Kremyanskaya, Marina; Rampal, Raajit K.; Abboud, Camille N.; Adler, Kenneth; Heaney, Mark L.; Jabbour, Elias J.; Komrokji, Rami S.; Moliterno, Alison R.; Ritchie, Ellen K.; Rice, Lawrence; Mascarenhas, John; Hoffman, Ronald (2015). "Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery ofJAK2 V617F". Journal of Clinical Oncology. 33 (33): 3953–3960. doi:10.1200/JCO.2015.61.6474. ISSN 0732-183X.
  5. ↑ Zhou, Amy W.; Knoche, Eric M.; Engle, Elizabeth K.; Ban-Hoefen, Makiko; Kaiwar, Charu; Oh, Stephen T. (2016). "Clinical Improvement with JAK2 Inhibition in Chuvash Polycythemia". New England Journal of Medicine. 375 (5): 494–496. doi:10.1056/NEJMc1600337. ISSN 0028-4793.
  6. ↑ Da-Silva SS, Sajan IS, Underwood JP (August 2003). "Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report". Pediatrics. 112 (2): e158–61. PMID 12897322.
  7. ↑ Bento C, McMullin MF, Percy M, et al. Primary Familial and Congenital Polycythemia. 2016 Nov 10. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK395975/
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