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Polycythemia Vera: Symptoms, Causes, Diagnosis, and Management

Polycythemia Vera (PV) is a rare, chronic myeloproliferative neoplasm (blood cancer) characterized by overproduction of red blood cells, white blood cells, and platelets due to a clonal hematopoietic stem cell mutation.

Cause and Risk Factors

  • JAK2 V617F mutation in >95% of cases; exon 12 mutations in most others.
  • Acquired somatic mutation—not inherited.
  • Median diagnosis age: 60-65; slightly more common in men.

Common Symptoms

Many patients are asymptomatic at diagnosis (incidental finding). When present, symptoms stem from hyperviscosity, thrombosis risk, and cytokine release:

  • Fatigue, weakness, headache, dizziness
  • Pruritus (especially after warm shower)—classic
  • Erythromelalgia (burning pain, redness in hands/feet)
  • Visual disturbances, tinnitus
  • Splenomegaly (early satiety, left upper quadrant fullness)
  • Bleeding (epistaxis, gum bleeding) or thrombotic events

Complications

  • Arterial/venous thrombosis (stroke, MI, DVT, PE, Budd-Chiari syndrome)
  • Hemorrhage (due to acquired von Willebrand syndrome)
  • Progression to myelofibrosis or acute leukemia (~5-10% at 20 years)
  • Peptic ulcer disease (increased histamine from basophilia)
  • Gout (hyperuricemia from high cell turnover)

Diagnosis

Per WHO 2016 criteria (major + minor):

  1. Hemoglobin >16.5 g/dL (men) / >16.0 g/dL (women) or Hct >49% (men) / >48% (women) or increased red cell mass.
  2. Bone marrow biopsy: hypercellularity with trilineage proliferation.
  3. JAK2 mutation.
  4. Subnormal serum erythropoietin level.

Management

Goal: Reduce thrombotic risk, control symptoms, prevent progression.

  • Phlebotomy: Target Hct <45% (men) / <42% (women). First-line for low-risk patients.
  • Low-dose aspirin (81-100 mg/day): Unless contraindicated; reduces thrombotic risk.
  • Cytoreductive therapy (high-risk: age >60 or prior thrombosis): Hydroxyurea (first-line), interferon-alpha (younger/pregnancy), ruxolitinib (hydroxyurea-resistant/intolerant), anagrelide (isolated thrombocytosis).
  • Pruritus: Antihistamines, SSRIs, phototherapy, ruxolitinib.
  • Monitoring: Regular CBC, spleen size, symptom assessment.

PV requires lifelong hematology follow-up. With modern management, median survival approaches 20+ years.

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