Polycythemia Vera (PV) is a chronic, clonal blood disorder classified under myeloproliferative neoplasms (MPNs). It is characterized by the overproduction of red blood cells in the bone marrow, often accompanied by elevated white blood cells and platelets. This increased cellularity leads to blood hyperviscosity, predisposing patients to thrombosis, hemorrhage, and organ complications.

PV is primarily driven by mutations in the JAK2 gene (V617F mutation in >95% of cases), which activate intracellular signaling pathways independent of normal growth regulation. The disease progresses slowly but may transform into myelofibrosis or acute leukemia in advanced stages.

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Clinical Manifestations and Disease Burden

PV may be asymptomatic at diagnosis, often identified through elevated hemoglobin or hematocrit levels in routine blood tests. However, many patients experience a range of symptoms related to increased blood viscosity and histamine release, including:

1. Headaches and dizziness
2. Pruritus (especially after warm showers)
3. Facial plethora and erythromelalgia
4. Visual disturbances
5. Fatigue and night sweats
6. Thrombotic events (e.g., deep vein thrombosis, stroke)
7. Splenomegaly or abdominal discomfort

Thrombosis is the most common complication and a leading cause of morbidity and mortality in PV patients.

Diagnosis: Key Laboratory and Genetic Markers

Diagnosis of PV is based on the World Health Organization (WHO) 2022 criteria, which include:
1. Elevated hemoglobin (>16.5 g/dL in men, >16.0 g/dL in women) or hematocrit
2. Hypercellular bone marrow biopsy showing panmyelosis
3. Presence of JAK2 mutation (V617F or exon 12)
4. Subnormal erythropoietin (EPO) levels

Other tests may include serum ferritin, lactate dehydrogenase (LDH), and peripheral blood smear analysis. It is crucial to differentiate PV from secondary erythrocytosis, which is caused by conditions like chronic hypoxia or tumors secreting EPO.

Risk Stratification and Disease Monitoring

PV patients are stratified based on age and history of thrombosis:
* Low-risk: Age <60 and no thrombotic history
* High-risk: Age ≥60 and/or prior thrombotic events

Monitoring includes routine complete blood counts (CBC), symptom assessments, spleen size evaluation, and thrombotic risk management. The Myeloproliferative Neoplasm Symptom Assessment Form (MPN-SAF) is often used to track symptom burden.

Treatment Landscape: Balancing Hematocrit and Risk

The primary therapeutic goals in PV are to prevent thrombotic events, control symptoms, and reduce disease progression risk.

First-line therapies include:

1. Phlebotomy: Maintains hematocrit <45% in men and <42% in women
2. Low-dose aspirin: Reduces clotting risk
3. Cytoreductive therapy (e.g., hydroxyurea): Used in high-risk patients

Second-line and emerging therapies:

1. Ruxolitinib (JAK1/2 inhibitor): Approved for PV patients intolerant or resistant to hydroxyurea; improves symptom control and spleen size
2. Ropeginterferon alfa-2b: A pegylated interferon offering disease-modifying potential with durable hematologic and molecular responses

Clinical trials: Ongoing for telomerase inhibitors, BET inhibitors, and novel immunomodulators.

Lifestyle modifications such as smoking cessation, hydration, and exercise also play a role in reducing thrombotic risk.

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Challenges and Long-Term Management

Although PV has a relatively long median survival (14–20 years), managing symptom burden and therapy-related side effects remains challenging. Long-term therapy can lead to cytopenias, fibrosis, or transformation to post-PV myelofibrosis or acute myeloid leukemia (AML) in up to 15% of patients.

Personalized care strategies guided by molecular monitoring, thrombosis risk, and patient-reported outcomes are essential in improving long-term quality of life and reducing disease complications.

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