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Updated: Dec 22 2021

Polycythemia Rubra Vera

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https://upload.medbullets.com/topic/120246/images/polycythemia.jpg
https://upload.medbullets.com/topic/120246/images/erythromelalgia.jpg
https://upload.medbullets.com/topic/120246/images/polycythemia_vera,_blood_smear.jpg
  • Snapshot
    • A 63-year-old man presents to urgent care with painful fingers and toes. He complains of a burning sensation, especially in the afternoon when the temperature is highest. He has had similar episodes in the past which resolve on its own. However, today his fingers are particularly painful. On review of systems, he reveals that he is fatigued and experiences night sweats and regular headaches. His weight today is 20 lbs lighter than his previous documented weight. Concerned, his physician orders a complete blood count and serum EPO level, both of which come back abnormal. His hemoglobin is 17 g/dL and his EPO level is well below normal. However, his peripheral blood smear shows RBC precursor cells.
  • Introduction
    • Myeloproliferative neoplasm with primarily increased production of RBCs
  • Epidemiology
    • Presentation in the 60s-70s
    • Male and females equally affected
    • Potentially more prevalent in those of Ashkenazi Jewish descent
  • etiology
    • Pathogenesis
      • mutations in JAK2 (Janus kinase)
        • V617F mutation
        • constitutively active Janus Kinase → unregulated myeloproliferation
      • erythrocytosis → ↑ blood viscosity
      • leukocytosis
      • thrombocytosis
    • Associated conditions
      • risk of progression to myelofibrosis or leukemia
  • Presentation
    • Symptoms
      • highly viscous blood
        • headaches
        • visual disturbance
        • thrombosiserythromelalgia (rare but classic)
          • painful burning sensation with increased temperatures in digits
          • episodic blood clots in extremities
        • hypertension
      • bleeding from engorged vessels
      • constitutional symptoms
        • fatigue
        • night sweats
        • weight loss
        • fever
        • malaise
      • pruritus exacerbated by hot water
        • histamine release from increased basophils
      • gouty attacks
    • Physical exam
      • hepatosplenomegaly
      • bruising
      • ischemic digits
      • large retinal veins on funduscopy
  • STUDIES
    • Complete blood count with smear
      • ↑ hemoglobin > 16 g/dL (female) or > 16.5 g/dL (male)
      • ↑ hct > 48% (female) or > 49% (male)
    • Bone marrow biopsy with hypercellularity
      • prominent proliferation of all cell lines
        • commonly seen with precursor cells
      • confirms diagnosis
      • baseline for assessing disease progression
    • JAK2 mutation in peripheral blood – most accurate
    • ↓ serum EPO
      • ↑ RBC despite low EPO
    • ↓ MCV
    • SaO2 normal
        • SaO2
        • EPO
        • RBC mass
        • Plasma Volume
        • Hypoxemia
        • Normal
        • Polycythemia rubra vera
        • Normal
        • Ectopic erythopoeitin
        • Normal
        • Normal
        • Smokers polycythemia
        • Variable
        • Stress polycythemia
        • Normal
        • Normal
        • Normal
        • Dehydration
        • Normal
        • Normal
        • Normal
  • Differential Diagnosis
    • Secondary polycythemia
    • Tumor-driven polycythemia
    • Other myeloproliferative neoplasm
  • DIAGNOSIS
    • Bone marrow biopsy with hypercellularity confirms diagnosis
  • Treatment
    • For low risk patients (< 60 years old and no prior thrombosis)
      • low-dose aspirin
        • to prevent thrombosis
      • perform phlebotomy until hematocrit is < 45%
    • For high risk patients ( ≥ 60 years old and/or prior thrombosis)
      • all the above plus
        • hydroxyurea (decrease cell count)
        • INF-α
      • second-line
        • ruxolitinib (JAK inhibitor)
    • Gout prophylaxis
      • allopurinol
    • Pruritus
      • antihistamines
  • Complications
    • Thrombosis
      • leading cause of morbidity and mortality
      • 45% of all deaths in polycythemia vera
      • Budd-Chiari syndrome
        • occlusion of IVC or hepatic veins leading to congestive liver disease
    • Hemorrhage
    • Peptic ulcers
      • increased histamine release from basophils
    • Gout
    • Progression to
      • myelofibrosis
      • CML
      • AML
  • Prognosis
    • > 10 years with treatment
    • 1.6x higher mortality than general population
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