Symptoms of Polycythemia Vera
Polycythemia vera (PV) presents with a wide range of symptoms including pruritus (especially after hot baths), erythromelalgia, headaches, visual disturbances, and fatigue, with many patients experiencing microvascular complications due to excessive red blood cell production. 1, 2
Common Clinical Manifestations
Constitutional Symptoms
- Fatigue (common)
- Pruritus (occurs in approximately 48% of patients) 3
- Bone pain
- Night sweats
- Weight loss
Microvascular Disturbances
- Headache
- Light-headedness
- Transient neurologic or ocular disturbances
- Tinnitus
- Atypical chest discomfort
- Paresthesias
- Erythromelalgia (painful burning sensation of hands/feet with erythema and warmth) - occurs in approximately 3% of PV patients 3
Vascular Complications
- Arterial thrombosis (16% of patients at or before diagnosis) 2
- Venous thrombosis (7% of patients at or before diagnosis) 2
- Unusual site thrombosis (splanchnic veins)
- Bleeding complications, especially with extreme thrombocytosis
Physical Examination Findings
- Splenomegaly (36% of patients) 2
- Abdominal discomfort due to splenomegaly
- Facial plethora/ruddy complexion
- Hypertension
Laboratory Findings
- Erythrocytosis (hemoglobin >16.5 g/dL in men or >16.0 g/dL in women) - required diagnostic criterion 2
- Thrombocytosis (53% of patients) 2
- Leukocytosis (49% of patients) 2
- JAK2 mutation (present in >95% of PV patients) 1, 4
Disease Progression Symptoms
- Worsening splenomegaly
- Progressive cytopenias (suggesting transformation to myelofibrosis)
- Symptoms of acute leukemia (occurs in approximately 6.8% of patients) 2
- Symptoms of myelofibrosis (occurs in approximately 12.7% of patients) 2
Important Clinical Considerations
The symptoms of PV can significantly impact quality of life, with many patients experiencing debilitating constitutional symptoms alongside the risk of life-threatening thrombotic events. Microvascular disturbances like erythromelalgia represent transient inflammation-based occlusive phenomena resulting from interaction between clonal platelets and endothelium 3.
Pruritus, particularly exacerbated by hot baths, is a characteristic and sometimes agonizing feature of PV that can result in sleep deprivation and interference with various social and physical activities 3. This symptom may be related to iron deficiency or serotonin metabolism abnormalities.
It's important to note that some patients may be asymptomatic at diagnosis, with PV discovered incidentally on routine blood work. However, even asymptomatic patients face increased risks of thrombosis, hemorrhage, and disease transformation that can impact mortality and quality of life.