Polycythemia vera differential diagnosis: Difference between revisions

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{{CMG}} {{AE}}{{MJK}}; {{shyam}}
{{CMG}} {{AE}}{{MJK}}; {{shyam}}
==Overview==
==Overview==
Polycythemia vera must be differentiated from a variety of other conditions that might cause polycythemia. Polycythemia vera must also be differentiated from secondary polycythemia, which is usually due to chronic hypoxia. Each of these conditions has different etiologies, symptoms, laboratory abnormalities, physical exam findings, and treatments.
Polycythemia vera must be differentiated from other myeloproliferative neoplasms, such as [[chronic myelogenous leukemia]], [[essential thrombocythemia]], and [[primary myelofibrosis]]. Polycythemia vera must also be differentiated from secondary polycythemia, which is usually due to chronic hypoxia. Each of these conditions have different etiologies, symptoms, laboratory abnormalities, physical exam findings, and treatments.


==Differential Diagnosis of Polycythemia Vera==
==Differential Diagnosis==
Polycythemia vera must be differentiated from a variety of other conditions that might cause polycythemia.<ref name="pmid25611051">{{cite journal| author=Tefferi A, Barbui T| title=Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. | journal=Am J Hematol | year= 2015 | volume= 90 | issue= 2 | pages= 162-73 | pmid=25611051 | doi=10.1002/ajh.23895 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25611051  }} </ref><ref name="pmid16879015">{{cite journal| author=Sanchez S, Ewton A| title=Essential thrombocythemia: a review of diagnostic and pathologic features. | journal=Arch Pathol Lab Med | year= 2006 | volume= 130 | issue= 8 | pages= 1144-50 | pmid=16879015 | doi=10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16879015  }} </ref><ref name="pmid24729196">{{cite journal| author=Jabbour E, Kantarjian H| title=Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management. | journal=Am J Hematol | year= 2014 | volume= 89 | issue= 5 | pages= 547-56 | pmid=24729196 | doi=10.1002/ajh.23691 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24729196  }} </ref>
Polycythemia vera must be differentiated from a variety of other conditions.


{|
{| class="wikitable"
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Category
!Characteristic/Parameter
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
!Etiology
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology
!Symptoms
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation
!Laboratory abnormalities
! colspan="14" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestations
!Physical examination
! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Laboratory findings
!Treatment
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Gold standard disgnosis
!Other associated abnormalities
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated findings
|-
|-
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography
||[[Polycythemia vera (PV)]] 
! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
|
! colspan="7" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
* [[JAK2]] mutation (V617F or exon 12 mutation) in more than 95% of cases
! colspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |CBC
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |EPO level
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |PBS
|-
! 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;" |Shortness of breath
! 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;" |Other symptoms
! 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;" |BP
! 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;" |Other signs
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RBC
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |WBC
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Plt
|-
! 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="left" style="background:#F5F5F5;" |
* Autonomous erythrocyte production
* Autonomous erythrocyte production
| align="center" style="background:#F5F5F5;" |JAK2 mutation > 95%
|
| 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="left" style="background:#F5F5F5;" |
* [[Erythromelagia]]
* [[Erythromelagia]]
* [[Chest pain]]
* [[Headache]]
| align="left" style="background:#F5F5F5;" |
* [[Stroke]]-like symptoms
* [[Stroke]]-like symptoms
* [[Pruritis]]
|
* Dizziness
* Elevated [[hemoglobin]]
* Visual disturbance
* Elevated [[red blood cell]] mass
| align="center" style="background:#F5F5F5;" |Facial plethora
* Elevated [[white blood cell]] count and [[platelet]] count in some cases (panmyelosis)
| align="center" style="background:#F5F5F5;" | Nl
|
| align="center" style="background:#F5F5F5;" | −
* [[Ruddy face]]
| align="center" style="background:#F5F5F5;" | ↑
* [[Splenomegaly]]
| align="left" style="background:#F5F5F5;" |
|
* Painful erythema
* [[Aspirin]]
| align="center" style="background:#F5F5F5;" | +
* [[Ruxolitinib]]
| align="left" style="background:#F5F5F5;" |
* [[Hydroxyurea]]
* [[Lymphadenopathy]]
* [[Phlebotomy]]
| align="center" style="background:#F5F5F5;" |↑
* [[Interferon-alpha]]
| align="center" style="background:#F5F5F5;" |↑ RBC mass
|
| align="center" style="background:#F5F5F5;" |Nl to ↑
* [[Extramedullary hematopoiesis]]
| align="center" style="background:#F5F5F5;" |Nl to ↑
| align="center" style="background:#F5F5F5;" |↓
| align="left" style="background:#F5F5F5;" |
* Elevated normochromic, normocytic [[Red blood cell|RBCs]]
* [[Thrombocytosis]]  
* Rarely immature cells
* Leukoerythroblastic picture
| align="center" style="background:#F5F5F5;" |WHO criteria for PV
| align="left" style="background:#F5F5F5;" |
* [[Stroke]]
* [[Stroke]]
* [[Venous thrombosis]]
* [[Venous thrombosis]]
* [[Myelofibrosis]]
* Can progress to post-PV [[myelofibrosis]] and eventually [[acute leukemia]]
* [[Acute leukemia]]
|-
|-
! 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>
||[[Essential thrombocythemia]] (ET) 
| align="center" style="background:#F5F5F5;" | Hypoxia-sensing disorder
|
| align="center" style="background:#F5F5F5;" | VHL mutation
* Clonal proliferation of megakaryocytes
| align="center" style="background:#F5F5F5;" | Russia, Italy
* Excess [[platelet]] production
<40 years old
* Caused by JAK2 mutation in 50% of cases
| align="center" style="background:#F5F5F5;" |  +
* Caused by CALR mutation in some cases
| align="center" style="background:#F5F5F5;" | +
|
| align="center" style="background:#F5F5F5;" | +
* Stroke-like symptoms
| align="center" style="background:#F5F5F5;" | ±
* [[Fatigue]]
| align="left" style="background:#F5F5F5;" |  
* Bleeding due to dysfunctional platelets and acquired [[von Willebrand disease]]
* [[Arthralgia]]
|
| align="left" style="background:#F5F5F5;" |  
* Elevated total [[platelet]] count
* [[Pruritis]]
|
* Dizziness
* [[Splenomegaly]]
| align="center" style="background:#F5F5F5;" | Facial plethora
* Bruising
| align="center" style="background:#F5F5F5;" | ↓
|
| align="center" style="background:#F5F5F5;" | −
* [[Aspirin]]
| align="center" style="background:#F5F5F5;" | ↑
* [[Hydroyurea]]
| align="left" style="background:#F5F5F5;" |  
* [[Anagrelide]]
* Painful erythema
|
| align="center" style="background:#F5F5F5;" | +
* Paradoxical bleeding can occur when platelet count is above 1,000,000 cells/microliter due to acquired von Willebrand disease
| align="left" style="background:#F5F5F5;" |
* Can progress to post-ET myelofibrosis
* [[Lymphadenopathy]]
* Can develop into acute leukemia
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↑
| align="left" style="background:#F5F5F5;" |
* Elevated normochromic, normocytic [[Red blood cell|RBCs]]
| align="center" style="background:#F5F5F5;" | Molecular genetic testing
| align="left" style="background:#F5F5F5;" |
* 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>
||[[Chronic myeloid leukemia]] (CML) 
| align="left" style="background:#F5F5F5;" |  
|
* Cytochrome b5 reductase deficiency
* Reciprocal translocation of chromosomes 9 and 22
* Hemoglobin M disease
* Production of BCR-Abl kinase, which drives cell proliferation
| align="center" style="background:#F5F5F5;" | Mutations in globin gene
|
| align="center" style="background:#F5F5F5;" | Infants
* [[Abdominal pain]]
| align="center" style="background:#F5F5F5;" | ±
* [[Infection|Infections]]
| align="center" style="background:#F5F5F5;" | ±
* [[Fever]]
| align="center" style="background:#F5F5F5;" | ±
|
| align="center" style="background:#F5F5F5;" | −
* Elevated total [[white blood cell count]]
| align="center" style="background:#F5F5F5;" | −
* Elevated [[red blood cell]] count and [[platelet]] count occasionally
| align="center" style="background:#F5F5F5;" | −
* Increased proportion of metamyelocytes and other [[white blood cells]] at various stages of maturation
| align="center" style="background:#F5F5F5;" | [[Cyanosis]]
|
| align="center" style="background:#F5F5F5;" | Inaccurately Nl
* [[Splenomegaly]]
| align="center" style="background:#F5F5F5;" | -
|
| align="center" style="background:#F5F5F5;" | Nl
* [[Imatinib]]
| align="center" style="background:#F5F5F5;" | −
* [[Dasatinib]]
| align="center" style="background:#F5F5F5;" | −
* [[Bosutinib]]
| align="left" style="background:#F5F5F5;" |
* [[Nilotinib]]
* Altered mental status
* [[Ponatinib]] for T315I kinase domain mutation
| align="center" style="background:#F5F5F5;" | ↑
* [[Interferon-alpha]]
| align="center" style="background:#F5F5F5;" | ↑
|
| align="center" style="background:#F5F5F5;" | Nl
* Can appear similar to [[leukemoid reaction]]
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | NA
| align="center" style="background:#F5F5F5;" | RBC enzyme activity + DNA analysis
| align="left" style="background:#F5F5F5;" |  
* Usually asymptomatic
|-
|-
! align="center" style="background:#DCDCDC;" |Primary familial and congenital polycythemia<ref>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/</ref>
|[[Primary myelofibrosis]] (PMF)  
| align="center" style="background:#F5F5F5;" | Autosomal dominant inheritance
|
| align="center" style="background:#F5F5F5;" | EPOR mutation
* Clonal disorder of [[megakaryocytes]]
| align="center" style="background:#F5F5F5;" | Very rare
* Excess production [[TGF-beta]] and [[collagen]]
| align="center" style="background:#F5F5F5;" | +
|
| align="center" style="background:#F5F5F5;" | +
* [[Fatigue]]
| align="center" style="background:#F5F5F5;" | ±
* [[Abdominal pain]]
| align="center" style="background:#F5F5F5;" | −
* Early satiety
| align="center" style="background:#F5F5F5;" | −
|
| align="center" style="background:#F5F5F5;" | −
* Decreased [[hemoglobin]] (anemia)
| align="center" style="background:#F5F5F5;" | Facial plethora
* Decreased [[platelet]] count (thrombocytopenia)
| align="center" style="background:#F5F5F5;" |Nl
* Decreased [[white blood cell]] count (leukopenia)
| align="center" style="background:#F5F5F5;" | -
|
| align="center" style="background:#F5F5F5;" | Nl to ↑
* [[Splenomegaly]]
| align="center" style="background:#F5F5F5;" | −
* [[Hepatomegaly]]
| align="center" style="background:#F5F5F5;" | −
* [[Pallor]]
| align="left" style="background:#F5F5F5;" |
* [[Bruising]]
* Altered mental status
|
| align="center" style="background:#F5F5F5;" | ↑
* [[Hydroxyurea]]
| align="center" style="background:#F5F5F5;" | ↑
* [[Stem cell transplant]]
| align="center" style="background:#F5F5F5;" | Nl
* [[Ruxolitinib]]
| align="center" style="background:#F5F5F5;" | Nl
|
| align="center" style="background:#F5F5F5;" | Nl to ↓
* Variable risk for development of [[acute leukemia]]
| align="center" style="background:#F5F5F5;" | NA
| align="center" style="background:#F5F5F5;" | Isolated erythrocytosis + genetic testing
| align="left" style="background:#F5F5F5;" |  
* Mild manifestations of hyperviscosity
|-
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Category
||Secondary polycythemia
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
|
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology
* [[Congestive heart failure]] (CHF)
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation
* [[Interstitial lung disease]] (ILD)
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Demography
* [[Obstructive sleep apnea]] (OSA)
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fatigue
* Smoking
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Headache
* High altitude living
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Shortness of breath
* Ectopic [[erythropoietin]] production from tumor (renal cell carcinoma or hepatocellular carcinoma)
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Bleeding
* Chronic [[hypoxia]] from a variety of other causes
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Pain
|
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other symptoms
* [[Headache]]
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Appearance
* [[Fatigue]]
! 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;" |BP
! 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;" |Other signs
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RBC
! 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;" |EPO level
! 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;" |Associated findings
|-
! rowspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Iatrogenic causes
! align="center" style="background:#DCDCDC;" |[[Smoking]]<ref name="Hasselbalch2015">{{cite journal|last1=Hasselbalch|first1=Hans Carl|title=Smoking as a contributing factor for development of polycythemia vera and related neoplasms|journal=Leukemia Research|volume=39|issue=11|year=2015|pages=1137–1145|issn=01452126|doi=10.1016/j.leukres.2015.09.002}}</ref><ref name="MalenicaPrnjavorac2017">{{cite journal|last1=Malenica|first1=Maja|last2=Prnjavorac|first2=Besim|last3=Bego|first3=Tamer|last4=Dujic|first4=Tanja|last5=Semiz|first5=Sabina|last6=Skrbo|first6=Selma|last7=Gusic|first7=Amar|last8=Hadzic|first8=Ajla|last9=Causevic|first9=Adlija|title=Effect of Cigarette Smoking on Haematological Parameters in Healthy Population|journal=Medical Archives|volume=71|issue=2|year=2017|pages=132|issn=0350-199X|doi=10.5455/medarh.2017.71.132-136}}</ref>
 
| align="left" style="background:#F5F5F5;" |  
* Reduced plasma volume
* Accelerated [[erythropoiesis]]
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | Any
| 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;" | [[Cyanosis]]
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" | −
| 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="center" style="background:#F5F5F5;" |Nl
| align="center" style="background:#F5F5F5;" | Nl to ↑
| align="center" style="background:#F5F5F5;" | Nl to ↑
| align="center" style="background:#F5F5F5;" | Nl to ↓
| align="center" style="background:#F5F5F5;" | NA
| align="center" style="background:#F5F5F5;" | Clinical manifestation
| align="center" style="background:#F5F5F5;" | NA
|-
! align="center" style="background:#DCDCDC;" |[[Carbon monoxide poisoning|Chronic exposure to carbon monoxide]]<ref name="WuJuurlink2014">{{cite journal|last1=Wu|first1=P. E.|last2=Juurlink|first2=D. N.|title=Carbon monoxide poisoning|journal=Canadian Medical Association Journal|volume=186|issue=8|year=2014|pages=611–611|issn=0820-3946|doi=10.1503/cmaj.130972}}</ref>
| align="left" style="background:#F5F5F5;" |
* Occupational exposure
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | Miners, fire fighters
| 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;" |
* Dizziness
* Altered cognition
| align="center" style="background:#F5F5F5;" | [[Cyanosis]], flushed cheeks
| align="center" style="background:#F5F5F5;" |Nl
| align="center" style="background:#F5F5F5;" | −
| 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="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl to ↓
| align="center" style="background:#F5F5F5;" | NA
| align="center" style="background:#F5F5F5;" | Blood level of [[carboxyhemoglobin]]
| align="left" style="background:#F5F5F5;" |
* Concomitant [[cyanide]] exposure
|-
! align="center" style="background:#DCDCDC;" |[[Diuretic|Diuretics]]<ref name="pmid3282731">{{cite journal |vauthors=Pollak R, Maddux MS, Cohan J, Jacobsson PK, Mozes MF |title=Erythrocythemia following renal transplantation: influence of diuretic therapy |journal=Clin. Nephrol. |volume=29 |issue=3 |pages=119–23 |date=March 1988 |pmid=3282731 |doi= |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* Reduced plasma volume
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" |Any
| 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;" |
* Dizziness
| align="center" style="background:#F5F5F5;" |Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | Nl to ↓
| 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;" |Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl to ↓
| align="center" style="background:#F5F5F5;" | NA
| align="center" style="background:#F5F5F5;" | Clinical manifestation
| align="center" style="background:#F5F5F5;" | NA
|-
! align="center" style="background:#DCDCDC;" |Use of [[Androgen|androgens]] or [[Anabolic steroid|anabolic steroids]]<ref name="pmid1942342">{{cite journal |vauthors=Krauss DJ, Taub HA, Lantinga LJ, Dunsky MH, Kelly CM |title=Risks of blood volume changes in hypogonadal men treated with testosterone enanthate for erectile impotence |journal=J. Urol. |volume=146 |issue=6 |pages=1566–70 |date=December 1991 |pmid=1942342 |doi= |url=}}</ref><ref name="pmid9072584">{{cite journal |vauthors=Morales A, Johnston B, Heaton JP, Lundie M |title=Testosterone supplementation for hypogonadal impotence: assessment of biochemical measures and therapeutic outcomes |journal=J. Urol. |volume=157 |issue=3 |pages=849–54 |date=March 1997 |pmid=9072584 |doi= |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
* Reduced plasma volume
* Accelerated [[erythropoiesis]]
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | Athletes
| 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;" | [[Acne vulgaris|Acne]] and [[hirsutism]]
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" |Nl to ↑
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="left" style="background:#F5F5F5;" |
* Gynecomastia
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↓
| align="center" style="background:#F5F5F5;" |NA
| align="center" style="background:#F5F5F5;" | Clinical manifestation
| align="left" style="background:#F5F5F5;" |
* [[Hypogonadism]]
* [[Cardiomegaly|Cardiac hypertrophy]]
|-
! align="center" style="background:#DCDCDC;" |Self-injection of [[erythropoietin]]<ref name="Elliott20082">{{cite journal|last1=Elliott|first1=S|title=Erythropoiesis-stimulating agents and other methods to enhance oxygen transport|journal=British Journal of Pharmacology|volume=154|issue=3|year=2008|pages=529–541|issn=00071188|doi=10.1038/bjp.2008.89}}</ref>
| align="left" style="background:#F5F5F5;" |
* Reduced plasma volume
* Accelerated [[erythropoiesis]]
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | Athletes
| 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;" | Muscular
| 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="center" style="background:#F5F5F5;" | ↑
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |NA
| align="center" style="background:#F5F5F5;" |[[Erythropoietin]] level
| align="left" style="background:#F5F5F5;" |
* [[ST elevation myocardial infarction|MI]]
* [[Stroke]]
* [[Thrombosis|Thromboembolic disease]]
* antibody-mediated anemia
|-
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Secondary causes
! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to [[hypoxemia]]<ref name="NadeemGui2012">{{cite journal|last1=Nadeem|first1=Omar|last2=Gui|first2=Jiang|last3=Ornstein|first3=Deborah L.|title=Prevalence of Venous Thromboembolism in Patients With Secondary Polycythemia|journal=Clinical and Applied Thrombosis/Hemostasis|volume=19|issue=4|year=2012|pages=363–366|issn=1076-0296|doi=10.1177/1076029612460425}}</ref> 
| align="left" style="background:#F5F5F5;" |
* Chronic lung disease
* [[Right-to-left shunt|Right-to-left cardiac shunts]]
* [[Sleep apnea]]
* [[Altitude sickness|High altitude]]
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | Depends on etiology
| 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;" |Depends on etiology
| align="left" style="background:#F5F5F5;" |
* [[Shortness of breath]]
* [[Shortness of breath]]
| align="center" style="background:#F5F5F5;" |[[Cyanosis]]
|
| align="center" style="background:#F5F5F5;" |↓
* Elevated [[hemoglobin]]
| align="center" style="background:#F5F5F5;" |−
* Increased [[erythropoietin]] level
| align="center" style="background:#F5F5F5;" |Nl to ↑
|
| align="center" style="background:#F5F5F5;" |−
| align="center" style="background:#F5F5F5;" |−
| align="left" style="background:#F5F5F5;" |
* [[Crackles]]
* [[Crackles]]
* [[Cyanosis]]
* [[Tachypnea]]
* [[Tachypnea]]
* [[Tachycardia]]
* [[Tachycardia]]
| align="center" style="background:#F5F5F5;" |↑
|
| align="center" style="background:#F5F5F5;" |↑
* Treatment of underlying cause of [[hypoxia]]
| align="center" style="background:#F5F5F5;" |Nl
* Supplemental oxygen
| align="center" style="background:#F5F5F5;" |Nl
* Diuresis for [[CHF]]
| align="center" style="background:#F5F5F5;" |↑
* Steroids for ILD
| align="center" style="background:#F5F5F5;" |NA
* Continuous positive airway pressure for OSA
| align="center" style="background:#F5F5F5;" |Clinical manifestation + imaging
* [[Smoking cessation]] or nicotine replacement
| align="left" style="background:#F5F5F5;" |
* Surgical removal of tumors
|
* Variable manifestations given the diverse etiologies
* Variable manifestations given the diverse etiologies
|-
|-
! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to [[erythropoietin]] producing tumor<ref name="pmid2297568">{{cite journal |vauthors=Da Silva JL, Lacombe C, Bruneval P, Casadevall N, Leporrier M, Camilleri JP, Bariety J, Tambourin P, Varet B |title=Tumor cells are the site of erythropoietin synthesis in human renal cancers associated with polycythemia |journal=Blood |volume=75 |issue=3 |pages=577–82 |date=February 1990 |pmid=2297568 |doi= |url=}}</ref>
| align="left" style="background:#F5F5F5;" |
*[[Renal cell carcinoma]]
*[[Hepatocellular carcinoma]]
*Cerebellar [[hemangioblastoma]]
*[[Pheochromocytoma]]
*[[Leiomyoma|Uterine fibroids]]
| align="center" style="background:#F5F5F5;" | −
| align="center" style="background:#F5F5F5;" | Depends on etiology
| 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;" |Depends on etiology
| align="center" style="background:#F5F5F5;" |Depends on etiology
| align="center" style="background:#F5F5F5;" |Chronically ill
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ±
| align="center" style="background:#F5F5F5;" | Nl to ↑
| align="center" style="background:#F5F5F5;" | ±
| align="center" style="background:#F5F5F5;" | ±
| align="left" style="background:#F5F5F5;" |
* [[Hepatomegaly]]
* [[Bruising]]
| align="center" style="background:#F5F5F5;" |↑/↓
| align="center" style="background:#F5F5F5;" |↑/↓
| align="center" style="background:#F5F5F5;" |Nl
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |NA
| align="center" style="background:#F5F5F5;" |Clinical manifestation + [[biopsy]]
| align="left" style="background:#F5F5F5;" |
* Variable manifestations given the diverse etiologies
|-
! align="center" style="background:#DCDCDC;" |[[Hereditary hemorrhagic telangiectasia]]<ref>McDonald J, Pyeritz RE. Hereditary Hemorrhagic Telangiectasia. 2000 Jun 26 [Updated 2017 Feb 2]. 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/NBK1351/</ref>
| align="left" style="background:#F5F5F5;" |
* [[Pulmonary arteriovenous malformation|Pulmonary arteriovenous malformations]]
| align="center" style="background:#F5F5F5;" |ACVRL1, ENG, GDF2, SMAD4 mutation
| align="center" style="background:#F5F5F5;" |Children
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | [[Gastrointestinal bleeding|GI bleeding]]
| align="center" style="background:#F5F5F5;" | -
| align="left" style="background:#F5F5F5;" |
* [[Epistaxis]]
* [[Hemoptysis]]
| align="center" style="background:#F5F5F5;" |Multiple [[telangiectasia]] on face, extremities, and body
| align="center" style="background:#F5F5F5;" | Nl to ↓
| align="center" style="background:#F5F5F5;" | -
| 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="center" style="background:#F5F5F5;" | ↑/↓
| align="center" style="background:#F5F5F5;" |Nl
| align="center" style="background:#F5F5F5;" | Nl
| align="center" style="background:#F5F5F5;" | ↑/↓
| align="center" style="background:#F5F5F5;" |NA
| align="center" style="background:#F5F5F5;" |Clinical criteria + genomic testing
| align="left" style="background:#F5F5F5;" |
* [[Dominance relationship|Autosomal dominant]]
* [[Pulmonary hypertension]]
* [[Cerebral arteriovenous malformation|Cerebral AVMs]]
|-
! 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;" |Etiology
! 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;" |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;" |Pain
! 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;" |SaO2
! 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;" |Splenomegaly
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Other signs
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Hb
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |RBC
! 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;" |EPO level
! 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;" |Associated findings
|}
|}
:<ref name="pmid25611051">{{cite journal| author=Tefferi A, Barbui T| title=Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk-stratification and management. | journal=Am J Hematol | year= 2015 | volume= 90 | issue= 2 | pages= 162-73 | pmid=25611051 | doi=10.1002/ajh.23895 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25611051  }} </ref><ref name="pmid16879015">{{cite journal| author=Sanchez S, Ewton A| title=Essential thrombocythemia: a review of diagnostic and pathologic features. | journal=Arch Pathol Lab Med | year= 2006 | volume= 130 | issue= 8 | pages= 1144-50 | pmid=16879015 | doi=10.1043/1543-2165(2006)130[1144:ET]2.0.CO;2 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16879015  }} </ref><ref name="pmid24729196">{{cite journal| author=Jabbour E, Kantarjian H| title=Chronic myeloid leukemia: 2014 update on diagnosis, monitoring, and management. | journal=Am J Hematol | year= 2014 | volume= 89 | issue= 5 | pages= 547-56 | pmid=24729196 | doi=10.1002/ajh.23691 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24729196  }} </ref>


==References==
==References==
{{reflist|2}}
{{Reflist|2}}
 
[[Category:Up-To-Date]]
[[Category:Oncology]]
[[Category:Medicine]]
[[Category:Medicine]]
[[Category:Hematology]]
[[Category:Hematology]]
[[Category:Up-To-Date]]
[[Category:Primary care]]

Revision as of 13:57, 24 August 2018

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]; Shyam Patel [3]

Overview

Polycythemia vera must be differentiated from other myeloproliferative neoplasms, such as chronic myelogenous leukemia, essential thrombocythemia, and primary myelofibrosis. Polycythemia vera must also be differentiated from secondary polycythemia, which is usually due to chronic hypoxia. Each of these conditions have different etiologies, symptoms, laboratory abnormalities, physical exam findings, and treatments.

Differential Diagnosis

Polycythemia vera must be differentiated from a variety of other conditions.

Characteristic/Parameter Etiology Symptoms Laboratory abnormalities Physical examination Treatment Other associated abnormalities
Polycythemia vera (PV)
  • JAK2 mutation (V617F or exon 12 mutation) in more than 95% of cases
  • Autonomous erythrocyte production
Essential thrombocythemia (ET)
  • Clonal proliferation of megakaryocytes
  • Excess platelet production
  • Caused by JAK2 mutation in 50% of cases
  • Caused by CALR mutation in some cases
  • Paradoxical bleeding can occur when platelet count is above 1,000,000 cells/microliter due to acquired von Willebrand disease
  • Can progress to post-ET myelofibrosis
  • Can develop into acute leukemia
Chronic myeloid leukemia (CML)
  • Reciprocal translocation of chromosomes 9 and 22
  • Production of BCR-Abl kinase, which drives cell proliferation
Primary myelofibrosis (PMF)
Secondary polycythemia
  • Treatment of underlying cause of hypoxia
  • Supplemental oxygen
  • Diuresis for CHF
  • Steroids for ILD
  • Continuous positive airway pressure for OSA
  • Smoking cessation or nicotine replacement
  • Surgical removal of tumors
  • Variable manifestations given the diverse etiologies
[1][2][3]


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.
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