Polycythemia vera and essential thrombocythemia: 2013 update on diagnosis, risk-stratification, and management

Ayalew Tefferi
American Journal of Hematology 2013, 88 (6): 507-16

DISEASE OVERVIEW: Polycythemia Vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms (MPN) primarily characterized by erythrocytosis and thrombocytosis, respectively. Other disease features include leukocytosis, splenomegaly, thrombohemorrhagic complications, vasomotor disturbances, pruritus and a small risk of disease progression into acute myeloid leukemia or myelofibrosis.

DIAGNOSIS: Almost all patients with PV harbor a JAK2 mutation. When PV is suspected, the presence of a JAK2 mutation highly suggests the diagnosis and its absence, combined with normal or increased serum erythropoietin level, excludes the diagnosis. Differential diagnosis of ET should include reactive thrombocytosis, chronic myeloid leukemia, prefibrotic myelofibrosis and RARS-T (refractory anemia with ring sideroblasts associated with marked thrombocytosis). A JAK2 mutation is found in 50-70% of patients with ET, myelofibrosis or RARS-T and is capable of distinguishing reactive from clonal thrombocytosis.

RISK STRATIFICATION: Current risk stratification in PV and ET is designed to estimate the likelihood of thrombotic complications: high-risk is defined by the presence of age >60 years or presence of thrombosis history; low-risk is defined by the absence of both of these two risk factors. Recent data considers JAK2V617F and cardiovascular (CV) risk factors as additional risk factors for thrombosis. Presence of extreme thrombocytosis (platelet count >1,000 × 10(9) /L) might be associated with acquired von Willebrand syndrome (AvWS) and, therefore, risk of bleeding. Risk factors for shortened survival in both PV and ET include advanced age, leukocytosis, and history of thrombosis.

RISK-ADAPTED THERAPY: Survival is near-normal in ET and reasonably long in PV. The 10-year risk of leukemic/fibrotic transformation is <1%/1% in ET and <3%/10% in PV. In contrast, the risk of thrombosis exceeds 20%. The main goal of therapy is therefore to prevent thrombohemorrhagic complications. In low risk patients, this is effectively and safely accomplished by the use of low-dose aspirin in both PV and ET and phlebotomy (hematocrit target of <45%) in PV. In high risk patients, treatment with hydroxyurea is additionally recommended, although not mandated in older patients without JAK2V617F or CV risk factors. Treatment with busulfan or interferon-α is usually effective in hydroxyurea failures. Screening for clinically significant AvWS is recommended before administrating aspirin in the presence of extreme thrombocytosis.

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