Description

Polycythemia is a condition characterized by an increased concentration of red blood cells (RBCs) in the blood. This leads to increased blood viscosity (thickness) and a higher risk of clots, which can cause complications like stroke or heart attack. 🩸 Types of Polycythemia 1. Primary Polycythemia Also called Polycythemia Vera (PV) — a type of myeloproliferative neoplasm (bone marrow cancer). Cause: Mutation in the JAK2 gene (found in >95% of cases) Leads to autonomous overproduction of RBCs (also WBCs and platelets) Erythropoietin (EPO) levels are low 2. Secondary Polycythemia Due to increased EPO production in response to: Chronic hypoxia (e.g., COPD, high altitude, sleep apnea) Tumors (e.g., renal cell carcinoma, hepatocellular carcinoma) Doping (EPO use by athletes) 3. Relative Polycythemia Normal RBC mass, but decreased plasma volume Often due to dehydration or stress ⚠️ Symptoms of Polycythemia Vera Headache Dizziness Blurred vision Itching after a hot shower (aquagenic pruritus) Red or flushed skin (especially face) Splenomegaly (enlarged spleen) Thrombosis (DVT, stroke, MI) Bleeding (e.g., nosebleeds, GI bleeding) 🧪 Diagnosis CBC: Elevated hemoglobin, hematocrit, RBC count ± elevated platelets/WBCs EPO level: ↓ in PV, ↑ in secondary JAK2 mutation testing Bone marrow biopsy (in some cases) Oxygen saturation and arterial blood gases (to check for hypoxia) 💊 Treatment For Polycythemia Vera (PV): Phlebotomy: First-line to maintain hematocrit <45% Low-dose aspirin: To reduce clotting risk Hydroxyurea: Cytoreductive therapy in high-risk patients Ruxolitinib: JAK inhibitor for resistant/intolerant cases Avoid iron supplements For Secondary Polycythemia: Treat the underlying cause (e.g., oxygen for COPD, remove tumor) No role for phlebotomy unless symptomatic

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