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 chronic myelogenous leukemia, essential thrombocythemia, and primary myelofibrosis.

Differential Diagnosis

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

Characteristic/Parameter	Etiology	Symptoms	Laboratory abnormalities	Physical examination	Treatment	Other associated abnormalities
Polycythemia vera (PV)	JAK2 mutation (V617F or exon 12 mutation) Autonomous erythrocyte production	Erythromelagia Headache Stroke-like symptoms	Elevated hemoglobin Elevated red blood cell mass Elevated white blood cell count and platelet count in some cases (panmyelosis)	Ruddy face Splenomegaly	Aspirin Ruxolitinib Hydroxyurea Phlebotomy Interferon-alpha	Extramedullary hematopoiesis Stroke Venous thrombosis Can progression to post-PV myelofibrosis and eventually acute leukemia
Essential thrombocythemia (ET)	Clonal proliferation of megakaryocytes Excess platelet production Occasionally caused by JAK2 mutation	Stroke-like symptoms Fatigue Bleeding due to dysfunctional platelets and acquired von Willebrand disease	Elevated total platelet count	Splenomegaly Bruising	Aspirin Hydroyurea Anagrelide	Paradoxical bleeding can occur when platelet count is above 1,000,000 cells/microliter due to acquired von Willebrand disease 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	Elevated total white blood cell count Elevated red blood cell count and platelet count occasionally Increased proportion of metamyelocytes and other white blood cells at various stages of maturation	Splenomegaly	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	Decreased hemoglobin (anemia) Decreased platelet count (thrombocytopenia) Decreased white blood cell count (leukopenia)	Splenomegaly Hepatomegaly Pallor Bruising	Hydroxyurea Stem cell transplant Ruxolitinib	Variable risk for development of acute leukemia
Hemolytic anemia	Medication-induced Autoimmunity Red blood cell membrane defect Red blood cell enzyme defect Shear stress from mechanical valves	Normocytic (80-100 femtoliter)	Indirect hyperbilirubinemia Reticulocytosis Low haptoglobin Elevated LDH	Pallor Jaundice	Removal of offending agent causing hemolysis Steroids Alternative immunosuppression	HELLP syndrome TTP CLL
Sideroblastic anemia	Alcoholism Lead poisoning Vitamin B6 deficiency Isoniazid Chloramphenicol	Microcytic (<80 femtoliter) Or Normocytic (80-100 femtoliter)	Ringed sideroblasts in bone marrow Low vitamin B6 level High lead level	Pallor Weakness	Removal of offending medication High-dose vitamin B6 (up to 200mg daily) Avoidance of splenectomy Symptomatic transfusion support with iron chelation as needed	Myelodysplastic syndrome Myeloproliferative neoplasm Iron overload
Anemia of chronic disease	Chronic kidney disease Rheumatologic disease Cancer HIV Chronic infection; excess release of IL-1 and IL-6	Normocytic (80-100 femtoliter)	Elevated ESR and CRP Elevated hepcidin Low serum iron Low transferrin Elevated ferritin	Pallor Weakness	Treatment of the underlying cause; erythropoiesis-stimulating agents Supportive red blood cell transfusions	Inflammatory bowel disease
Erythropoietin deficiency	Chronic kidney disease or other renal dysfunction	Normocytic (80-100 femtoliter)	Low erythropoietin level	Pallor Weakness Signs of chronic kidney disease	Epoetin alfa 50-100 units/kg 3 times weekly Darbepoietin 0.45 mcg/kg weekly or 0.75 mcg/kg every 2 weeks	Dialysis dependence Myelodysplastic syndrome
Vitamin B12 or folate deficiency	Pernicious anemia Diphyllobothrium latum infection Nutritional deficiency Crohn's disease of terminal ileum	Macrocytic (>100 femtoliter)	Low vitamin B12 or folate level Megaloblastic anemia with hypersegmented neutrophils	Numbness Weakness Tingling Paresthesias	Vitamin B12 1000mcg daily Folate 1mg daily	Neuropathy

• Chronic myelogenous leukemia
• Essential thrombocythemia
• Primary myelofibrosis

References

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