Polycythemia differential diagnosis: Difference between revisions
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{| | {| | ||
! rowspan="3" |Category | ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Category | ||
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease | ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease | ||
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology | ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology | ||
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation | ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation | ||
! colspan="14" |Clinical manifestations | ! colspan="14" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestations | ||
! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Laboratory findings | ! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Laboratory findings | ||
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Gold standard disgnosis | ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Gold standard disgnosis | ||
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated findings | ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated findings | ||
|- | |- | ||
! rowspan="2" |Demography | ! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography | ||
! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms | ! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms | ||
! colspan="7" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs | ! colspan="7" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs | ||
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! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fatigue | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fatigue | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Headache | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Headache | ||
!Shortness of breath | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Shortness of breath | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Bleeding | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Bleeding | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pain | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pain | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other symptoms | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other symptoms | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Appearance | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Appearance | ||
!SaO2 | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |SaO2 | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever | ||
!BP | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |BP | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Splenomegaly | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Splenomegaly | ||
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! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Plt | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Plt | ||
|- | |- | ||
! rowspan="4" |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="center" style="background:#F5F5F5;" | | ||
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* Mild manifestations of hyperviscosity | * Mild manifestations of hyperviscosity | ||
|- | |- | ||
! | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Category | ||
!Disease | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease | ||
!Etiology | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology | ||
!Mutation | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation | ||
!Demography | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography | ||
!Fatigue | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fatigue | ||
!Headache | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Headache | ||
!Shortness of breath | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Shortness of breath | ||
!Bleeding | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Bleeding | ||
!Pain | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pain | ||
!Other symptoms | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other symptoms | ||
!Appearance | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Appearance | ||
!SaO2 | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |SaO2 | ||
!Fever | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever | ||
!BP | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |BP | ||
!Tenderness | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness | ||
!Splenomegaly | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Splenomegaly | ||
!Other signs | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other signs | ||
!Hb | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb | ||
!RBC | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RBC | ||
!WBC | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |WBC | ||
!Plt | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Plt | ||
!EPO level | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |EPO level | ||
!PBS | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |PBS | ||
!Gold standard diagnosis | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Gold standard diagnosis | ||
!Associated findings | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated findings | ||
|- | |- | ||
! rowspan="5" |Iatrogenic causes | ! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Iatrogenic causes | ||
!Smoking | !Smoking | ||
! | ! | ||
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! | ! | ||
|- | |- | ||
! rowspan="2" |Secondary causes | ! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Secondary causes | ||
! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to hypoxemia | ! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to hypoxemia | ||
| align="left" style="background:#F5F5F5;" | | | align="left" style="background:#F5F5F5;" | | ||
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! | ! | ||
|- | |- | ||
! | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Category | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation | ||
! | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fatigue | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fatigue | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Headache | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Headache | ||
! | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Shortness of breath | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Bleeding | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Bleeding | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pain | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pain | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other symptoms | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other symptoms | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Appearance | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Appearance | ||
! | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |SaO2 | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever | ||
! | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |BP | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Splenomegaly | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Splenomegaly | ||
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! style="background: #4479BA; color: #FFFFFF; text-align: center;" |WBC | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |WBC | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Plt | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Plt | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |EPO level | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |PBS | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |PBS | ||
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Gold standard diagnosis | ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Gold standard diagnosis |
Revision as of 20:15, 21 August 2018
Polycythemia Microchapters |
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Polycythemia differential diagnosis On the Web |
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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] |
|
JAK2 mutation > 95% | Mean age >60 years old | + | + | + | +/- | Facial plethora | Nl | - | ↑ |
|
+ | ↑ | ↑ RBC mass | Nl to ↑ | Nl to ↑ | ↓ |
|
WHO criteria for PV | ||||
Chuvash polycythemia[5] | Hypoxia-sensing disorder | VHL mutation | Russia, Italy
<40 years old |
+ | + | + | +/- |
|
Facial plethora | ↓ | - | ↑ |
|
+ | ↑ | ↑ | Nl | Nl | ↑ |
|
Molecular genetic testing |
| |||
Hereditary methemoglobinemia[6] |
|
Mutations in globin gene | Infants | +/- | +/- | +/- | - | - | - | Cyanosis | Inaccurately Nl | - | Nl | - | - | Altered mental status | ↑ | ↑ | Nl | Nl | Nl | NA | RBC enzyme activity + DNA analysis |
| |
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 |
| ||
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 |
|
- | Any | - | - | + | - | - | - | Cyanosis | ↓ | - | Nl | - | - | - | ↑ | ↑ | Nl | Nl | Nl to ↓ | NA | Clinical manifestation | NA |
Chronic exposure to carbon monoxide |
|
- | Miners, fire fighters | + | + | + | - | - |
|
Cyanosis | ↓ | - | Nl | - | - | - | ↑ | ↑ | Nl | Nl | Nl to ↓ | NA | Blood level of carboxyhemoglobin | NA | |
Diuretics | |||||||||||||||||||||||||
Use of androgens or anabolic steroids |
|
||||||||||||||||||||||||
Self-injection of erythropoietin |
|
||||||||||||||||||||||||
Secondary causes | Secondary polycythemia due to hypoxemia |
|
- | Depends on etiology | + | + | + | - | Depends on etiology | Cyanosis | ↓ | - | Nl to ↑ | - | - | ↑ | ↑ | Nl | Nl | ↑ | NA | Clinical manifestation + imaging |
| ||
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 |
| |||
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
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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/