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- Myeloproliferative clonal 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 as well as malignant transformation. Myelofibrosis can develop in the “spent” phase of the disease.
- Synonym(s): Primary polycythemia; Vaquez disease; Polycythemia, splenomegalic; Vaquez-Osler disease
- Predominant age: Middle to late years; mean is 60 years (range 15–90 years)
- Predominant sex: Male > Female (slightly)
Incidence in the US: 1.9/100,000 person-years
- Ashkenazi Jewish ancestry (may have increased frequency)
- Familial history (rare)
JAK2V617F (tyrosine kinase) mutation: Prevalence of 95–99%; is helpful in differentiating from secondary polycythemia. Homozygote carriers will have higher incidence of symptoms, such as pruritus, but will not have higher incidence of disease than heterozygotes (1)[A].
Clonal proliferative disorder commonly associated with JAK2 V617F mutation.
Commonly Associated Conditions
- Budd-Chiari syndrome
- Mesenteric artery thrombosis
- Myocardial infarction
- Cerebrovascular accident or transient ischemic attack
- Deep vein thrombosis/pulmonary embolism