Polycythemia Vera

Epidemiology

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Etiology

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Physiology

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Diagnosis

Complete Blood Count (CBC) (see Complete Blood Count)

  • Hemoglobin
    • Hemoglobin >16.5 g/dL: defined as polycythemia in males
    • Hemoglobin >16.0 g/dL: defined as polycythemia in females
  • Hematocrit
    • Hematocrit >49%: defined as polycythemia in males
    • Hematocrit >48%: defined as polycythemia in females
  • Red Blood Cell Count: not used as often as hemoglobin and hematocrit in the diagnosis of polycythemia (since diseases such as thalassemia minor may have an elevated red blood cell count with a decreased hemoglobin or hematocrit due to an increased number of small/microcytic, poorly hemoglobinized/hypochromic red blood cells)

Serum Erythropoietin (see Serum Erythropoietin)

  • Decreased Serum Erythropoietin Level: occurs in 81% of cases (Leukemia, 2013) [MEDLINE]

Endogenous Erythroid Colony Formation In Vitro Assay

  • Endogenous Erythroid Colony Formation Occurs in 73% of Cases (Leukemia, 2013) [MEDLINE]
  • Technique: performed using in vitro culture technique (available only in specialized centers)
    • Formation of Erythroid Colonies in the Absence of Exogenous Erythropoietin

Clinical Manifestations

Cardiovascular Manifestations

  • Hypertension (see Hypertension)
    • Epidemiology: occurs in 46% of cases (Leukemia, 2013) [MEDLINE]
    • Clinical: xxxx

Dermatologic Manifestations

  • Erythromelalgia (see Erythromelalgia)
    • Epidemiology: occurs in 29% of cases (Leukemia, 2013) [MEDLINE]
    • Clinical: burning pain in hands/feet with associated erythema/pallor/cynanosis
  • Facial Plethora (Ruddy Cyanosis)
  • Pruritus (see Pruritus)
    • Epidemiology: occurs in 36% of cases (Leukemia, 2013) [MEDLINE]
    • Possible Physiologic Mechanisms
      • Mast Cell Degranulation: with release of histamine, fibrinolytic factors, prostaglandins, and/or IL-31)
      • Release of Adenosine Disphosphate from Red Blood Cells or Release of Catecholamines from Adrenergic Vasoconstrictor Nerves When the Skin is Cooled: resulting in platelet aggregation in the skin blood vessels with local production of prostaglandins (which cause pruritus)
    • Clinical
      • Aquagenic Pruritus (Pruritus Following a Warm Bath/Shower): common (and may be present for years prior to the formal diagnosis of polycythemia vera)
      • Excoriation of the Skin May Be Seen in Association with the Pruritus
    • Treatment: aspirin may be effective in some cases

Gastrointestinal Manifestations

  • Gastroduodenal Erosions/Peptic Ulcer Disease (PUD) (see Peptic Ulcer Disease)
    • Epidemiology: occurs in some cases
    • Physiology: alteration in gastric mucosal blood flow (due to altered blood viscosity, release of histamine from tissue basophils, and/or Helicobacter Pylori infection)
  • Hepatomegaly (see Hepatomegaly)
    • Epidemiology: occurs in some cases

Hematologic Manifestations

Ophthlamologic Manifestations

Pulmonary Manifestations

Rheumatologic/Orthopedic Manifestations

  • Gouty Arthritis/Tophi (see Gout, Gout)

Treatment

Ruxolitinib (Jakafi) (see Ruxolitinib, Ruxolitinib)

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References

  • Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia. 2013;27(9):1874. Epub 2013 Jun 6 [MEDLINE]