Polycythaemia Vera (PV)

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What is Polycythaemia Vera (PV)?

Polycythaemia Vera (PV) is a chronic myeloproliferative neoplasm where the bone marrow overproduces red blood cells, often white cells and platelets, leading to blood thickening and complications. It’s driven by JAK2 mutation (95% of cases), classified as a slow-progressing cancer. In 2025, ~3,000 US cases annually, median age 60, more in men.

Symptoms

Symptoms include fatigue, headaches, dizziness, visual disturbances, itching (after hot baths), redness (ruddy complexion), burning pain in hands/feet (erythromelalgia), gout, abdominal fullness (splenomegaly), and bleeding/bruising. Many are asymptomatic. Complications include blood clots (stroke, heart attack) or transformation to myelofibrosis/AML (10-20%).

Causes

The primary cause is JAK2 V617F mutation (95%), with rare TET2/CALR mutations. Risk factors include age (over 60), male gender, and family history (rare). No strong environmental links, but radiation or benzene exposure suspected. In 2025, clonal hematopoiesis is a precursor.

Diagnosis

Diagnosis uses CBC showing high hemoglobin/hematocrit/red cells, bone marrow biopsy for hypercellularity, JAK2 testing, and EPO levels (low). Ultrasound assesses spleen. In 2025, NGS detects additional mutations for risk.

Treatment

Treatment reduces blood viscosity: phlebotomy (hematocrit <45%), low-dose aspirin for clotting prevention, and cytoreductive therapy (hydroxyurea, ruxolitinib for high-risk). Interferon-alpha for young patients. In 2025, ruxolitinib improves symptom control.

Future Outlook

In 2025, median survival is 20 years with treatment, but 20% progress to fibrosis/AML. JAK2 inhibitors extend disease-free survival. By 2030, gene therapies could cure PV.

Sources

The information is based on Mayo Clinic’s “Polycythemia vera – Symptoms & causes” for symptoms; Cleveland Clinic’s “Polycythemia Vera: What It Is, Symptoms & Treatment” for overview; NCBI’s “Polycythemia Vera – StatPearls” for diagnosis; WebMD’s “Polycythemia Vera (PV): Symptoms, Causes, Diagnosis” for causes; Healthline’s “Polycythemia Vera Outlook and Life Expectancy” for outlook; YouTube’s “Understanding polycythemia vera (PV): Diagnosis, treatments” for treatment; Pharmacy Times’s “The Evolving Landscape of Polycythemia Vera Treatment” for updates; The Oncology Nurse’s “Getting Closer to Disease Modification in Polycythemia Vera” for future; Johns Hopkins’s “Polycythemia Vera” for symptoms; Texas Oncology’s “Polycythemia Vera” for overview.