Symptoms of Polycythemia Vera
Polycythemia vera presents with a characteristic constellation of symptoms including microvascular disturbances (headache, light-headedness, transient neurologic or ocular disturbances, tinnitus, atypical chest discomfort, paresthesias), pruritus (affecting up to 48% of patients), and erythromelalgia (painful burning sensations of the hands and feet), along with increased risk of thrombotic and hemorrhagic complications. 1, 2
Microvascular Disturbances
These symptoms result from platelet-mediated endothelial injury and transient thrombotic occlusion of arterioles: 1
- Headache and light-headedness are common presenting complaints 2
- Transient neurologic or ocular disturbances occur frequently, with neurologic complications affecting 50-80% of patients 3
- Tinnitus (ringing in the ears) 1, 2
- Atypical chest discomfort that may mimic cardiac disease 1, 2
- Paresthesias (abnormal sensations) 1, 2
- Dizziness related to hyperviscosity 3
Erythromelalgia
Erythromelalgia is a distinctive and characteristic feature of polycythemia vera, occurring in approximately 3-5.3% of patients: 1, 4, 2
- Presents as painful and burning sensations of the feet or hands 1, 2
- Associated with erythema (redness) and warmth of affected areas 1, 2
- Results from platelet-mediated arteriolar inflammation and increased thromboxane production 4
- Responds promptly (within hours) to low-dose aspirin (81 mg/day) in most cases 1, 2
Pruritus (Itching)
Generalized pruritus is one of the most characteristic and agonizing symptoms of polycythemia vera: 1
- Documented in up to 48% of patients either at diagnosis or later in disease course 1, 2
- Characteristically exacerbated by hot baths or showers (aquagenic pruritus), affecting approximately one-third of patients 1, 4
- May be the most debilitating aspect of the disease 1
- Can result in sleep deprivation and interference with social and physical activities 1
- May correlate with iron deficiency (low mean corpuscular volume) 1
Constitutional Symptoms
- Fatigue is a substantial component of symptom burden 5, 6
- Bone pain may occur 6
- Splenomegaly (enlarged spleen) develops in many patients 7
Thrombotic Complications
Patients are at high risk for both arterial and venous thrombotic events: 5, 6, 3
- Stroke 6
- Myocardial infarction 6
- Pulmonary embolism 6
- Deep vein thrombosis 6
- Splanchnic vein thrombosis 7
- Twenty-year risk for thrombosis is approximately 26% 7
Hemorrhagic Manifestations
Bleeding complications can occur, particularly in specific circumstances: 4, 3
- Most common in patients with extreme thrombocytosis (platelet count ≥1000 × 10⁹/L) 4
- Results from acquired von Willebrand disease due to decreased large von Willebrand factor multimers abnormally adsorbed to clonal platelets 4
- Patients are paradoxically prone to hemorrhages despite thrombotic risk 3
Clinical Phenotype
- Plethora (ruddy, reddish complexion) 1
- Engorged veins visible on examination 1
- Associated with leukocytosis and thrombocytosis in addition to erythrocytosis 1
Important Clinical Pitfall
The symptoms related to hyperviscosity (headache, dizziness) respond immediately to reduction of cell counts through phlebotomy, while microvascular symptoms like erythromelalgia respond specifically to aspirin therapy. 1, 3 Failure to distinguish between these symptom categories may lead to inadequate symptom management even when hematocrit is controlled.