Polycythemia differential diagnosis

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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]

Differential Diagnosis

Polycythemia must be differentiated from a variety of other conditions.

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		+	-	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
Essential thrombocythemia (ET)	50%	+/-	Clonal proliferation of megakaryocytes Excess platelet production	+		+ (paradoxical)		Stroke-like symptoms				+	Bruises				↑ (dysfunctional platelets)			Aspirin Hydroyurea Anagrelide	Acquired von Willebrand disease Myelofibrosis Acute leukemia
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	Imatinib Dasatinib Bosutinib Nilotinib Ponatinib for T315I kinase domain mutation Interferon-alpha	Can appear similar to leukemoid reaction
Primary myelofibrosis (PMF)			Clonal disorder of megakaryocytes Excess production TGF-beta and collagen	+		+	Abdominal pain	Early satiety	Pallor			+	Hepatomegaly Bruising	↓	↓	↓	↓			Hydroxyurea Stem cell transplant Ruxolitinib	Variable risk for development of acute leukemia
Secondary polycythemia due to chronic hypoxia	-	-	Congestive heart failure (CHF) Interstitial lung disease (ILD) Obstructive sleep apnea (OSA) Smoking	+	+	-	Depends on etiology	Shortness of breath	Cyanosis			-	Crackles Tachypnea Tachycardia	↑	↑	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	+/-	+/-	-	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