Polycythemia differential diagnosis: Difference between revisions

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{{Polycythemia}}
{{Polycythemia}}
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==Overview==


==Overview==
==Differential Diagnosis==
Polycythemia must be differentiated from a variety of other conditions.<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>


==Differential Diagnosis for Polycythemia ==
{|
*Acute leukoses
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
*Androgen Therapy
! colspan="2" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation
*Cerebellar [[hemangioblastoma]]
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology
*[[Cushing's Syndrome]]
! colspan="10" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestations
*Decreased arterial PO2
! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Laboratory findings
*[[Familial erythrocytosis]]
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Treatment
*[[Hydronephrosis]]
! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated findings
*[[Hyperthyroidism]]
|-
*[[Liver Tumors]]
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
*Lung Tumors
! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
*[[Pheochromocytoma]]
! colspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |CBC
*[[Polycythemia Vera]]
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Erythropoietin level
*[[Pregnancy]]
! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |PBS
*[[Primary hyperaldosteronism]]
|-
*Reduced [[plasma]] volume
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |JAK2 mutation
*[[Renal cysts]]
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |CALR mutation
*[[Renal Cell Carcinoma]]
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fatigue
*[[Tissue hypoxia]]
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Headache
*[[Toxins]]
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Bleeding
*[[Uterine leimyoma]]
! 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;" |Fever
! 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
|-
! align="center" style="background:#DCDCDC;" |[[Polycythemia vera (PV)]] 
| align="center" style="background:#F5F5F5;" |> 95%
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |Autonomous erythrocyte production
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | -
| align="left" style="background:#F5F5F5;" |
* [[Erythromelagia]]
| align="left" style="background:#F5F5F5;" |
* [[Stroke]]-like symptoms
| align="center" style="background:#F5F5F5;" |[[Ruddy face]]
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" |NA
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |↑ RBC mass
| 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="left" style="background:#F5F5F5;" |
* [[Aspirin]]
* [[Ruxolitinib]]
* [[Hydroxyurea]]
* [[Phlebotomy]]
* [[Interferon-alpha]]
| align="left" style="background:#F5F5F5;" |
* [[Stroke]]
* [[Venous thrombosis]]
* [[Myelofibrosis]]
* [[Acute leukemia]]
|-
! align="center" style="background:#DCDCDC;" |[[Essential thrombocythemia]] (ET) 
| align="center" style="background:#F5F5F5;" |50%
| align="center" style="background:#F5F5F5;" | +/-
| align="left" style="background:#F5F5F5;" |
* Clonal proliferation of megakaryocytes
* Excess [[platelet]] production
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" | + (paradoxical)
| align="center" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* Stroke-like symptoms
| 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;" |[[Bruises]]
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |↑ (dysfunctional platelets)
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* [[Aspirin]]
* [[Hydroyurea]]
* [[Anagrelide]]
| align="left" style="background:#F5F5F5;" |
* Acquired [[von Willebrand disease]]
* [[Myelofibrosis]]
* [[Acute leukemia]]
|-
! align="center" style="background:#DCDCDC;" |[[Chronic myeloid leukemia]] (CML) 
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="left" style="background:#F5F5F5;" |
* Reciprocal translocation of chromosomes 9 and 22
* Production of BCR-Abl kinase
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" |[[Abdominal pain]]
| 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;" |↑
| align="center" style="background:#F5F5F5;" |↑
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |Elevated metamyelocytes and other [[white blood cells]] at various stages of maturation
| align="left" style="background:#F5F5F5;" |
* [[Imatinib]]
* [[Dasatinib]]
* [[Bosutinib]]
* [[Nilotinib]]
* [[Ponatinib]] for T315I kinase domain mutation
* [[Interferon-alpha]]
| align="left" style="background:#F5F5F5;" |
* Can appear similar to [[leukemoid reaction]]
|-
! align="center" style="background:#DCDCDC;" |[[Primary myelofibrosis]] (PMF)
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* Clonal disorder of [[megakaryocytes]]
* Excess production [[TGF-beta]] and [[collagen]]
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" | +
| align="center" style="background:#F5F5F5;" |[[Abdominal pain]]
| align="left" style="background:#F5F5F5;" |
* Early satiety
| align="center" style="background:#F5F5F5;" |Pallor
| align="center" style="background:#F5F5F5;" |
| 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;" |↓
| align="center" style="background:#F5F5F5;" |↓
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |
| align="left" style="background:#F5F5F5;" |
* [[Hydroxyurea]]
* [[Stem cell transplant]]
* [[Ruxolitinib]]
| align="left" style="background:#F5F5F5;" |
* Variable risk for development of [[acute leukemia]]
|-
! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to chronic hypoxia
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="left" style="background:#F5F5F5;" |
* [[Congestive heart failure]] (CHF)
* [[Interstitial lung disease]] (ILD)
* [[Obstructive sleep apnea]] (OSA)
* Smoking
| 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]]
| align="center" style="background:#F5F5F5;" |[[Cyanosis]]
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" |
| align="center" style="background:#F5F5F5;" | -
| align="left" style="background:#F5F5F5;" |
* [[Crackles]]
* [[Tachypnea]]
* [[Tachycardia]]
| 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;" |
| align="left" style="background:#F5F5F5;" |
* Treatment of underlying cause
| align="left" style="background:#F5F5F5;" |
* Variable manifestations given the diverse etiologies
|-
! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to [[erythropoietin]] producing tumor
| align="center" style="background:#F5F5F5;" | -
| align="center" style="background:#F5F5F5;" | -
| align="left" style="background:#F5F5F5;" |
* Renal cell carcinoma
* Hepatocellular carcinoma
| 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;" | +/-
| align="center" style="background:#F5F5F5;" | +/-
| align="center" style="background:#F5F5F5;" | -
| align="center" 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;" |
| align="center" style="background:#F5F5F5;" |
* Surgery
* Chemotherapy
| align="center" style="background:#F5F5F5;" |
* Variable manifestations given the diverse etiologies
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |JAK2 mutation
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |CALR mutation
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology
! 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;" |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;" |Fever
! 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;" |Erythropoietin level
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |PBS
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Treatment
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated findings
|}


== Relative Polycythemia ==
Relative polycythemia is an apparent rise of the erythrocyte level in the blood; however, the underlying cause is reduced blood plasma. Relative polycythemia is often caused by fluid loss eg. burns, dehydration and stress polycythemia.


==References==
==References==
{{reflist|2}}
{{reflist|2}}
[[Category:Hematology|Hematology]]
{{WS}}
{{WH}}

Revision as of 15:12, 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

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

Disease Mutation Etiology Clinical manifestations Laboratory findings Treatment Associated findings
Symptoms Signs CBC Erythropoietin level PBS
JAK2 mutation CALR mutation Fatigue Headache Bleeding Pain Other symptoms Appearance Fever Tenderness Splenomegaly Other signs Hb RBC WBC Plt
Polycythemia vera (PV) > 95% Autonomous erythrocyte production + - Ruddy face - - + NA ↑ ↑ RBC mass Nl to ↑ Nl to ↑
Essential thrombocythemia (ET) 50% +/-
  • Clonal proliferation of megakaryocytes
  • Excess platelet production
 + + (paradoxical)
  • Stroke-like symptoms
 + Bruises ↑ (dysfunctional platelets)
Chronic myeloid leukemia (CML) - -
  • Reciprocal translocation of chromosomes 9 and 22
  • Production of BCR-Abl kinase
 + + + Abdominal pain + + ↑ ↑ ↑ ↑ Elevated metamyelocytes and other white blood cells at various stages of maturation
Primary myelofibrosis (PMF) + + Abdominal pain
  • Early satiety
 Pallor + ↓ ↓ ↓ ↓
Secondary polycythemia due to chronic hypoxia - - + + - Depends on etiology Cyanosis - ↑ ↑ Nl Nl ↑
  • Treatment of underlying cause
  • Variable manifestations given the diverse etiologies
Secondary polycythemia due to erythropoietin producing tumor - -
  • Renal cell carcinoma
  • Hepatocellular carcinoma
 + - - Depends on etiology Depends on etiology Chronically ill +/- +/- - ↑/↓ ↑/↓ Nl ↑ ↑
  • Surgery
  • Chemotherapy
  • Variable manifestations given the diverse etiologies
Disease JAK2 mutation CALR mutation Etiology Fatigue Headache Bleeding Pain Other symptoms Appearance Fever Tenderness Splenomegaly Other signs Hb RBC WBC Plt Erythropoietin level PBS Treatment 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.
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