Polycythemia differential diagnosis: Difference between revisions

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Revision as of 19:52, 21 August 2018

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
				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
Mutational causes	Polycythemia vera (PV)^[4]	Autonomous erythrocyte production	JAK2 mutation > 95%	Mean age >60 years old	+	+	+	+/-	Erythromelagia Chest pain	Stroke-like symptoms Pruritis Dizziness Visual disturbance	Facial plethora	Nl	-	↑	Painful erythema	+	Lymphadenopathy	↑	↑ RBC mass	Nl to ↑	Nl to ↑	↓	Elevated normochromic, normocytic RBCs Thrombocytosis Rarely immature cells Leukoerythroblastic picture	WHO criteria for PV	Stroke Venous thrombosis Myelofibrosis Acute leukemia
	Chuvash polycythemia^[5]	Hypoxia-sensing disorder	VHL mutation	Russia, Italy <40 years old	+	+	+	+/-	Arthralgia	Pruritis Dizziness	Facial plethora	↓	-	↑	Painful erythema	+	Lymphadenopathy	↑	↑	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
	Idiopathic familial polycythemia
Iatrogenic causes	Smoking	Reduced plasma volume																						Clinical manifestation
	Chronic exposure to carbon monoxide	Occupational exposure			+	+	+	-	-	Dizziness Headache Altered cognition														Blood level of carboxyhemoglobin
	Diuretics
	Use of androgens or anabolic steroids	Doping in athletes
	Self-injection of erythropoietin	Doping in athletes
Secondary causes	Secondary polycythemia due to hypoxemia	Chronic lung disease Right-to-left cardiac shunts Sleep apnea High altitude	-		+	+		-	Depends on etiology	Shortness of breath	Cyanosis					-	Crackles Tachypnea Tachycardia	↑	↑	Nl	Nl	↑			Variable manifestations given the diverse etiologies
Secondary causes	Secondary polycythemia due to erythropoietin producing tumor	Renal cell carcinoma Hepatocellular carcinoma Cerebellar hemangioblastoma Pheochromocytoma Uterine fibroids	-		+	-		-	Depends on etiology	Depends on etiology	Chronically ill		+/-		+/-	+/-	Hepatomegaly Bruising	↑/↓	↑/↓	Nl	↑	↑			Variable manifestations given the diverse etiologies
	Hereditary hemorrhagic telangiectasia	Pulmonary arteriovenous malformations																↑/↓	↑/↓
	Disease	Etiology	JAK2 mutation		Fatigue	Headache		Bleeding	Pain	Other symptoms	Appearance		Fever		Tenderness	Splenomegaly	Other signs	Hb	RBC	WBC	Plt	Erythropoietin 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.

[pmid25611051-1] 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.

[pmid16879015-2] 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.

[pmid24729196-3] 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.

[SteinOh2015-4] 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.

[ZhouKnoche2016-5] 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.

[pmid12897322-6] 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.

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[2]

[3]

[4]

[5]

[6]

@@ Line 13: / Line 13: @@
 ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology
 ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation
-! colspan="12" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestations
+! colspan="14" |Clinical manifestations
 ! 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;" |Associated findings
 |-
+! rowspan="2" |Demography
 ! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
-! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
+! colspan="7" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
 ! colspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |CBC
-! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Erythropoietin level
+! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |EPO level
 ! rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |PBS
 |-
@@ Line 33: / Line 34: @@
 !SaO2
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever
+!BP
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Splenomegaly
@@ Line 42: / Line 44: @@
 |-
 ! rowspan="4" |Mutational causes
-! align="center" style="background:#DCDCDC;" |Polycythemia vera (PV)
+! 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;" |
 * 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]]
+* [[Chest pain]]
 | align="left" style="background:#F5F5F5;" |
 * [[Stroke]]-like symptoms
-| align="center" style="background:#F5F5F5;" |[[Ruddy face]]
+* [[Pruritis]]
-|
+* Dizziness
+* Visual disturbance
+| align="center" style="background:#F5F5F5;" |Facial plethora
+|Nl
 | align="center" style="background:#F5F5F5;" | -
+|↑
 | align="center" style="background:#F5F5F5;" |
 * Painful erythema
 | align="center" style="background:#F5F5F5;" | +
-| align="center" style="background:#F5F5F5;" |NA
+| align="center" style="background:#F5F5F5;" |
+* [[Lymphadenopathy]]
 | 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="center" style="background:#F5F5F5;" |
+* Elevated normochromic, normocytic [[Red blood cell|RBCs]]
-| align="left" style="background:#F5F5F5;" |
+* [[Thrombocytosis]]
+* Rarely immature cells
+* Leukoerythroblastic picture
+| align="left" style="background:#F5F5F5;" |'''WHO criteria for PV'''
 | align="left" style="background:#F5F5F5;" |
 * [[Stroke]]
@@ Line 74: / Line 87: @@
 * [[Acute leukemia]]
 |-
-!Chuvash polycythemia
+!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
 !VHL mutation
+!Russia, Italy
+<40 years old
+| +
+| +
+| +
+| +/-
+|
+* [[Arthralgia]]
 !
+* [[Pruritis]]
+* Dizziness
+|Facial plethora
+|↓
+| -
+|↑
+|
+* Painful erythema
+| +
+|
+* [[Lymphadenopathy]]
+|↑
+|↑
+!Nl
+!Nl
+|↑
 !
+* Elevated normochromic, normocytic [[Red blood cell|RBCs]]
+!Molecular genetic testing
 !
+* Multiple thrombotic events
+|-
+!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>
 !
+* 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
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
 |-
-!Congenital methemoglobinemia
+!Idiopathic familial polycythemia
 !
 !
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-!
-|-
-!Idiopathic familial polycythemia
 !
 !
@@ Line 150: / Line 180: @@
 !
 * Reduced plasma volume
+!
+!
 !
 !
@@ Line 175: / Line 207: @@
 !
 * Occupational exposure
+!
 !
 !+
@@ Line 185: / Line 218: @@
 * Headache
 * Altered cognition
+!
 !
 !
@@ Line 201: / Line 235: @@
 |-
 !Diuretics
+!
+!
 !
 !
@@ Line 227: / Line 263: @@
 !
 * Doping in athletes
+!
+!
 !
 !
@@ Line 252: / Line 290: @@
 !
 * Doping in athletes
+!
+!
 !
 !
@@ Line 283: / Line 323: @@
 *
 | align="center" style="background:#F5F5F5;" | -
+|
 | align="center" style="background:#F5F5F5;" | +
 | align="center" style="background:#F5F5F5;" | +
@@ Line 293: / Line 334: @@
 |
 | align="center" style="background:#F5F5F5;" |
+|
 | align="center" style="background:#F5F5F5;" |
 | align="center" style="background:#F5F5F5;" | -
@@ Line 317: / Line 359: @@
 *[[Leiomyoma|Uterine fibroids]]
 | align="center" style="background:#F5F5F5;" | -
+|
 | align="center" style="background:#F5F5F5;" | +
 | align="center" style="background:#F5F5F5;" | -
@@ Line 326: / Line 369: @@
 |
 | align="center" style="background:#F5F5F5;" | +/-
+|
 | align="center" style="background:#F5F5F5;" | +/-
 | align="center" style="background:#F5F5F5;" | +/-
@@ Line 344: / Line 388: @@
 !Hereditary hemorrhagic telangiectasia
 !Pulmonary arteriovenous malformations
+!
+!
 !
 !
@@ Line 370: / Line 416: @@
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |JAK2 mutation
+!
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fatigue
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Headache
@@ Line 379: / Line 426: @@
 !
 ! 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

Polycythemia differential diagnosis: Difference between revisions

Revision as of 19:52, 21 August 2018

Overview

Differential Diagnosis of Polycythemia

References

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