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Erythrocytosis and Polycythemia: Differential Diagnosis

Evaluation of elevated hemoglobin and hematocrit

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Hematoloji department. Book Appointment →

What is Erythrocytosis and Polycythemia: Differential Diagnosis?

Erythrocytosis is an increase in the red cell mass in peripheral blood. In men, hemoglobin above 16.5 g/dL or hematocrit above 49 percent, and in women, hemoglobin above 16.0 g/dL or hematocrit above 48 percent are considered erythrocytosis. The first step is distinguishing relative erythrocytosis (hemoconcentration) from absolute erythrocytosis.

Absolute erythrocytosis can be primary (clonal, polycythemia vera with JAK2 mutation) or secondary (driven by physiologic or pathologic increases in EPO). Secondary causes include chronic hypoxia (COPD, sleep apnea, high altitude), EPO-producing tumors such as renal cell carcinoma or hepatocellular carcinoma, and congenital high-oxygen-affinity hemoglobinopathies.

Diagnostic workup uses JAK2 V617F testing, serum EPO, arterial blood gas, sleep study, and abdominal imaging. In polycythemia vera, phlebotomy is used to keep the hematocrit below 45 percent. In secondary erythrocytosis the underlying cause is treated.

Symptoms

Headache and dizziness
Facial plethora (flushing)
Pruritus, especially after exposure to warm water (aquagenic pruritus)
Blurred vision
Thrombotic events such as stroke, myocardial infarction, or DVT
Splenomegaly in polycythemia vera

Risk Factors

JAK2 V617F mutation in polycythemia vera
Chronic lung disease such as COPD or interstitial lung disease
Obstructive sleep apnea
Smoking
Living at high altitude

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Elevated hemoglobin and hematocrit are detected
  • An unexplained thrombotic event has occurred
  • Aquagenic pruritus and plethora coexist

Treatment Methods

01
Polycythemia vera: phlebotomy targeting hematocrit below 45 percent
02
Low-dose aspirin for thrombosis prophylaxis
03
Cytoreduction with hydroxyurea, interferon alfa, or ruxolitinib
04
Secondary erythrocytosis: treat the underlying cause
05
CPAP therapy for sleep apnea
06
Workup for EPO-producing tumors

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Hematoloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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