Polycythemia differential diagnosis: Difference between revisions

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Revision as of 16:25, 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	Mutation		Etiology	Clinical manifestations										Laboratory findings						Treatment	Associated findings
		Mutation			Symptoms					Signs					CBC				Erythropoietin level	PBS
		JAK2 mutation	VHL mutation		Fatigue	Headache	Bleeding	Pain	Other symptoms	Appearance	Fever	Tenderness	Splenomegaly	Other signs	Hb	RBC	WBC	Plt	Erythropoietin level	PBS
Mutational causes	Polycythemia vera (PV)	> 95%		Autonomous erythrocyte production		+	-	Erythromelagia	Stroke-like symptoms	Ruddy face	-	-	+	NA	↑	↑ RBC mass	Nl to ↑	Nl to ↑			Aspirin Ruxolitinib Hydroxyurea Phlebotomy Interferon-alpha	Stroke Venous thrombosis Myelofibrosis Acute leukemia
	Chuvash polycythemia		+
	Congenital methemoglobinemia
	Idiopathic familial polycythemia
Iatrogenic causes	Smoking
	Use of androgens or anabolic steroids
	Diuretics
	Self-injection of erythropoietin
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	↑		Treatment of underlying cause	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	↑	↑		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

↑ 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.

[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.

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+! rowspan="3" |Category
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-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |CALR mutation
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |VHL mutation
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fatigue
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+! rowspan="4" |Mutational causes
 ! align="center" style="background:#DCDCDC;" |Polycythemia vera (PV)
 | align="center" style="background:#F5F5F5;" |> 95%
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 * [[Acute leukemia]]
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+!Idiopathic familial polycythemia
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+! rowspan="4" |Iatrogenic causes
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 * Variable manifestations given the diverse etiologies
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 ! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to [[erythropoietin]] producing tumor
 | align="center" style="background:#F5F5F5;" | -

Polycythemia differential diagnosis: Difference between revisions

Revision as of 16:25, 21 August 2018

Overview

Differential Diagnosis of Polycythemia

References

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