A working diagnosis of essential thrombocythemia (ET) is made in the presence of nonreactive thrombocytosis and after the exclusion of another chronic myeloid disorder that may mimic ET in its presentation. Clinically, ET is characterized by vasomotor symptoms, thrombohemorrhagic complications, recurrent fetal loss, and transformation of the disease into either myelofibrosis with myeloid metaplasia or acute myeloid leukemia. Median survival in the majority of patients is close to that of an age-adjusted normal population, and current therapy has not been shown to either retard or hasten leukemic transformation, which is reported to occur in 1% to 20% of patients. The use of hydroxyurea in high-risk patients with ET has reduced the incidence of thrombosis, and recent studies have suggested the value of keeping the platelet count below 400 x 109/L in such cases. The incidence of thrombosis in low-risk patients may not be high enough to warrant the use of cytoreductive therapy. Although effective in controlling vasomotor symptoms, aspirin therapy has not been shown to influence the risk of either recurrent thrombosis or first-trimester miscarriage in ET. Recent laboratory studies have suggested that hematopoiesis in ET may not always be clonal. Similarly, there is substantial heterogeneity in both megakaryocyte/platelet surface expression of the thrombopoietin receptor (c-Mpl) and bone marrow microvessel density. Clinicopathologic correlates to these biologic parameters are currently being defined.
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