Polycythemia vera differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2]; Shyam Patel [3]

Overview

Polycythemia vera must be differentiated from other myeloproliferative neoplasms, such as chronic myelogenous leukemia, essential thrombocythemia, and primary myelofibrosis. Polycythemia vera must also be differentiated from secondary polycythemia, which is usually due to chronic hypoxia. Each of these conditions have different etiologies, symptoms, laboratory abnormalities, physical exam findings, and treatments.

Differential Diagnosis

Polycythemia vera must be differentiated from a variety of other conditions.

Disease	Etiology	Symptoms	Signs	Laboratory abnormalities	Treatment	Other associated abnormalities
Polycythemia vera (PV)	JAK2 mutation (V617F or exon 12 mutation) in more than 95% of cases Autonomous erythrocyte production	Erythromelagia Headache Stroke-like symptoms	Ruddy face Splenomegaly	↑ Hemoglobin ↑ RBC mass ↑ WBC ↑ Platelet Panmyelosis	Aspirin Ruxolitinib Hydroxyurea Phlebotomy Interferon-alpha	Extramedullary hematopoiesis Stroke Venous thrombosis Can progress to post-PV myelofibrosis and eventually acute leukemia
Essential thrombocythemia (ET)	Clonal proliferation of megakaryocytes Excess platelet production Caused by JAK2 mutation in 50% of cases Caused by CALR mutation in some cases	Stroke-like symptoms Fatigue Bleeding due to dysfunctional platelets and acquired von Willebrand disease	Splenomegaly Bruising	↑ Platelet	Aspirin Hydroxyurea Anagrelide	Paradoxical bleeding Can progress to post-ET myelofibrosis Can develop into acute leukemia
Chronic myeloid leukemia (CML)	Reciprocal translocation of chromosomes 9 and 22 Production of BCR-Abl kinase, which drives cell proliferation	Abdominal pain Infections Fever	Splenomegaly	↑ RBC mass ↑ WBC ↑ Platelet ↑ Proportion of 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	Fatigue Abdominal pain Early satiety	Splenomegaly Hepatomegaly Pallor Bruising	↓ Hemoglobin ↓ WBC ↓ Platelet	Hydroxyurea Stem cell transplant Ruxolitinib	Variable risk for development of acute leukemia
Secondary polycythemia	Congestive heart failure Interstitial lung disease Obstructive sleep apnea Smoking High altitude sickness Ectopic erythropoietin production from tumor (renal cell carcinoma or hepatocellular carcinoma) Chronic hypoxia from a variety of other causes	Headache Fatigue Shortness of breath	Crackles Cyanosis Tachypnea Tachycardia	↑ Hemoglobin ↑ Erythropoietin level	Treatment of underlying cause of hypoxia Supplemental oxygen Diuresis for CHF Steroids for ILD Continuous positive airway pressure for OSA Smoking cessation or nicotine replacement Surgical removal of tumors	Variable manifestations given the diverse etiologies