Authors: Sophie Sompayrac, Vincent S Gallicchio.
Polycythemia Vera (PV) is a myeloproliferative disorder characterized by the uncontrolled proliferation of blood cells, particularly red blood cells, due to mutations, such as the Janus-Associated Kinase (JAK). This condition leads to thickened blood resulting in various clinical manifestations like hypertension, headaches, fatigue, and an increased risk of thrombotic events such as strokes and myocardial infarctions. Over time, PV progresses through stages: the early stage, where symptoms are mild or absent; the advancing stage, marked by increasing discomfort and potential secondary complications; and the spent phase, where extensive scarring of the bone marrow (myelofibrosis) doesn’t allow for correct hematopoiesis, leading to cell depletion and anemia. In some cases, PV can progress to acute myeloid leukemia (AML) or myelodysplastic syndrome (MS). Diagnostic criteria for PV include blood tests showing elevated red blood cell counts, bone marrow biopsies indicating excessive blood cell production, and molecular tests detecting JAK2 mutations. Treatment strategies focus on managing symptoms and reducing complications. Phlebotomy is commonly used to reduce hematocrit levels, while cytoreductive agents like Hydroxyurea (HU) and interferon alpha (IFN-α) may be prescribed to reduce cell proliferation. Aspirin and antithrombotic therapies are employed to reduce thrombotic risk. Emerging therapies, such as JAK inhibitors like ruxolitinib offer targeted treatment options. While there is no cure for PV early diagnosis and appropriate treatment can significantly improve long-term prognosis with younger patients and those receiving timely interventions experiencing better outcomes. Advanced cases may require stem cell transplants, which offer the potential for a cure but come with associated risks.
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