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Initial evaluation

May consist of:

  • CBC with differential
  • Pulse oximetry
  • Serum erythropoetin
  • JAK2 (V617F, exon 12 mutation)
  • Comprehensive metabolic panel (CMP)
  • Reticulocyte count
  • Iron, total iron binding capacity (TIBC), ferritin
  • Clinical history of arterial or venous thromboembolism (VTE), stroke, post-bathing pruritis, facial plethora, headache, fatigue, visual changes

Secondary polycythemia?

  • Smoking
  • Chronic lung disease
  • Obstructive sleep apnea (OSA)
  • Carbon monoxide (CO) exposure
    • Home heating: natural gas or oil?
    • Carbon monoxide detectors?
    • Carboxyhemoglobin
  • High altitude environments
  • Testosterone use
  • Erythropoetin use
  • Athletic blood doping/transfusions
  • Right to left cardiac shunt
  • Dehydration/diuretic use

Additional considerations

  • Renal ultrasound or other imaging to evaluate for erythropoetin-secreting renal tumor, pheochromocytoma
  • Chest x-ray
  • Urinalysis
  • Family history of high oxygen affinity hemoglobinopathies?
  • Cushing's syndrome?
  • Congenital polycythemia?