Polycythemia differential diagnosis: Difference between revisions

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Revision as of 18:53, 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
				Symptoms						Signs						CBC				Erythropoietin level	PBS
				Fatigue	Headache	Shortness of breath	Bleeding	Pain	Other symptoms	Appearance	SaO2	Fever	Tenderness	Splenomegaly	Other signs	Hb	RBC	WBC	Plt	Erythropoietin level	PBS
Mutational causes	Polycythemia vera (PV)	Autonomous erythrocyte production	JAK2 mutation > 95%		+		-	Erythromelagia	Stroke-like symptoms	Ruddy face		-	Painful erythema	+	NA	↑	↑ RBC mass	Nl to ↑	Nl to ↑				Stroke Venous thrombosis Myelofibrosis Acute leukemia
	Chuvash polycythemia		VHL mutation
	Congenital methemoglobinemia
	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.

[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.

[1]

[2]

[3]

@@ Line 11: / Line 11: @@
 ! rowspan="3" |Category
 ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Disease
-! colspan="2" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation
 ! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Etiology
-! colspan="10" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestations
+! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Mutation
+! colspan="12" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Clinical manifestations
 ! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Laboratory findings
-! rowspan="3" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Treatment
+! 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
 |-
-! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
+! colspan="6" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Symptoms
-! colspan="5" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Signs
+! colspan="6" 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;" |PBS
 |-
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |JAK2 mutation
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |VHL mutation
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fatigue
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Headache
+!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
+!SaO2
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fever
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Tenderness
@@ Line 43: / Line 43: @@
 ! rowspan="4" |Mutational causes
 ! 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
+* Autonomous erythrocyte production
+| align="center" style="background:#F5F5F5;" |JAK2 mutation > 95%
 | align="center" style="background:#F5F5F5;" |
 | align="center" style="background:#F5F5F5;" | +
+|
 | align="center" style="background:#F5F5F5;" | -
 | align="left" style="background:#F5F5F5;" |
@@ Line 54: / Line 55: @@
 * [[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;" |
+* Painful erythema
 | align="center" style="background:#F5F5F5;" | +
 | align="center" style="background:#F5F5F5;" |NA
@@ Line 65: / Line 68: @@
 | align="center" style="background:#F5F5F5;" |
 | align="left" style="background:#F5F5F5;" |
-* [[Aspirin]]
-* [[Ruxolitinib]]
-* [[Hydroxyurea]]
-* [[Phlebotomy]]
-* [[Interferon-alpha]]
 | align="left" style="background:#F5F5F5;" |
 * [[Stroke]]
@@ Line 78: / Line 76: @@
 !Chuvash polycythemia
 !
-!+
+!VHL mutation
+!
 !
 !
@@ Line 100: / Line 99: @@
 |-
 !Congenital methemoglobinemia
+!
 !
 !
@@ Line 123: / Line 123: @@
 |-
 !Idiopathic familial polycythemia
+!
 !
 !
@@ Line 145: / Line 146: @@
 !
 |-
-! rowspan="4" |Iatrogenic causes
+! rowspan="5" |Iatrogenic causes
 !Smoking
 !
+* Reduced plasma volume
 !
 !
@@ Line 167: / Line 169: @@
 !
 !
+!Clinical manifestation
 !
 |-
-!Use of androgens or anabolic steroids
+!Chronic exposure to carbon monoxide
+!
+* Occupational exposure
+!
+!+
+!+
+!+
+!-
+!-
+!
+* Dizziness
+* Headache
+* Altered cognition
+!
+!
+!
+!
+!
+!
+!
+!
+!
+!
+!
+!
+!Blood level of [[carboxyhemoglobin]]
+!
+|-
+!Diuretics
+!
 !
 !
@@ Line 192: / Line 224: @@
 !
 |-
-!Diuretics
+!Use of androgens or anabolic steroids
+!
+* Doping in athletes
 !
 !
@@ Line 216: / Line 250: @@
 |-
 !Self-injection of erythropoietin
+!
+* Doping in athletes
 !
 !
@@ Line 240: / Line 276: @@
 ! rowspan="2" |Secondary causes
 ! align="center" style="background:#DCDCDC;" |Secondary polycythemia due to hypoxemia
-| align="center" style="background:#F5F5F5;" | -
-| align="center" style="background:#F5F5F5;" | -
 | align="left" style="background:#F5F5F5;" |
 * Chronic lung disease
@@ Line 248: / Line 282: @@
 * [[Altitude sickness|High altitude]]
 *
+| 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
@@ Line 255: / Line 291: @@
 * [[Shortness of breath]]
 | align="center" style="background:#F5F5F5;" |[[Cyanosis]]
+|
 | align="center" style="background:#F5F5F5;" |
 | align="center" style="background:#F5F5F5;" |
@@ Line 269: / Line 306: @@
 | 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]]
@@ Line 282: / Line 316: @@
 *[[Pheochromocytoma]]
 *[[Leiomyoma|Uterine fibroids]]
+| 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;" | +/-
 | align="center" style="background:#F5F5F5;" | +/-
 | align="center" style="background:#F5F5F5;" | +/-
-| align="center" style="background:#F5F5F5;" | -
 | align="center" style="background:#F5F5F5;" |
 * [[Hepatomegaly]]
@@ Line 301: / Line 338: @@
 | align="center" style="background:#F5F5F5;" |
 | align="center" style="background:#F5F5F5;" |
-* Surgery
-* Chemotherapy
 | align="center" style="background:#F5F5F5;" |
 * Variable manifestations given the diverse etiologies
+|-
+!
+!Hereditary hemorrhagic telangiectasia
+!Pulmonary arteriovenous malformations
+!
+!
+!
+!
+!
+!
+!
+!
+!
+!
+!
+!
+!
+|↑/↓
+|↑/↓
+!
+!
+!
+!
+!
+!
 |-
 !
 ! 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;" |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
@@ Line 327: / Line 388: @@
 ! 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;" |Gold standard diagnosis
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Associated findings
 |}

Polycythemia differential diagnosis: Difference between revisions

Revision as of 18:53, 21 August 2018

Overview

Differential Diagnosis of Polycythemia

References

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