Symptoms of Polycythemia Vera
Polycythemia vera presents with a constellation of symptoms including pruritus (33% of patients), erythromelalgia (5.3%), transient visual changes (14%), splenomegaly with abdominal discomfort (36%), along with constitutional symptoms such as fatigue and bone pain. 1
Vascular and Microvascular Manifestations
The most clinically significant manifestations are thrombotic events, which occur in approximately 16% of patients as arterial thrombosis and 7% as venous thrombosis at or before diagnosis. 1 These thrombotic complications can involve unusual sites, particularly splanchnic veins. 1
Erythromelalgia is a distinctive microvascular disturbance characterized by painful burning sensations of the hands and feet, occurring in 5.3% of patients. 1 This symptom has been specifically associated with platelet-mediated arteriolar inflammation and increased thromboxane production. 2
Cutaneous and Sensory Symptoms
Aquagenic pruritus affects approximately one-third of patients (33%) and represents a particularly bothersome non-life-threatening complication. 1, 2 This itching is characteristically triggered or worsened by contact with water.
Transient visual disturbances occur in 14% of patients, likely related to microvascular changes and altered blood flow dynamics. 1
Constitutional Symptoms
Patients commonly experience:
- Fatigue, which significantly impacts quality of life 3
- Bone pain, related to marrow hyperplasia 3
- Abdominal discomfort from splenomegaly, present in 36% of patients 1
Hemorrhagic Manifestations
While thrombosis is more common, bleeding can occur, particularly in patients with extreme thrombocytosis (platelet count ≥1000 × 10⁹/L) who develop acquired von Willebrand disease. 1 This bleeding diathesis occurs in more than one-third of PV patients and results from decreased large von Willebrand factor multimers that are abnormally adsorbed to clonal platelets. 2
Physical Examination Findings
Splenomegaly is detectable in 36% of patients and may cause early satiety or left upper quadrant fullness. 1 The physical examination may also reveal plethora (ruddy complexion) due to increased red blood cell mass, though this is not quantified in the guidelines.
Important Clinical Pitfall
Many patients may be asymptomatic at diagnosis, with polycythemia detected incidentally on routine blood work. 4 The absence of symptoms does not exclude the diagnosis, and the focus should remain on laboratory findings (elevated hemoglobin/hematocrit) and JAK2 mutation status rather than symptom presence. 1