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- Polycythemia vera (PV) is a chronic myeloproliferative clonal stem cell disorder marked by increased production of red blood cells (erythrocytosis) with excessive erythroid, myeloid, and megakaryocytic elements in the bone marrow.
- Morbidity and mortality are primarily related to complications from blood hyperviscosity leading to thrombosis development as well as malignant transformation. Untreated patients may survive 6 to 18 months. Adequate treatment may extend life to >10 years.
- Myelofibrosis can develop in the bone marrow, leading to progressive hepatosplenomegaly.
- Synonyms: primary polycythemia; maladie de Vaquez disease; Waldenström disease; primary PV; PV rubra; polycythemia, splenomegalic; Vaquez-Osler disease
- Predominant age: 50 to 75 years; however, can occur in early adulthood and childhood
- Predominant sex: male > female (slightly)
- Incidence in the United States in 2012: 2.8/100,000 population of men and 1.3/100,000 population of women; highest for men 70 to 79 years at 24/100,000 persons per year
In the United States in 2010, estimates ranged from 45 to 57 cases/100,000 patients.
Etiology and Pathophysiology
JAK2 V617F mutation associated with clonal proliferative disorder
JAK2 V617F (tyrosine kinase) mutation: >97% of patients with PV have an activating mutation; this is helpful in differentiating from secondary erythrocytosis. Homozygote carriers will have higher incidence of symptoms such as pruritus but will not have higher incidence of disease than heterozygotes.
- PV may be slightly more prevalent among Jews of Eastern European descent than other Europeans or Asians.
- Familial history is rare.
Commonly Associated Conditions
- Budd-Chiari syndrome
- Ischemic digits
- Mesenteric artery thrombosis
- Myocardial infarction
- Cerebrovascular accident or transient ischemic attack
- Venous thromboembolism and pulmonary embolism