Polycythemia Vera

Polycythemia vera (PV) is a rare, chronic blood disorder characterized by the excessive production of red blood cells, white blood cells, and platelets. It is a type of myeloproliferative neoplasm (MPN), which means that it affects the bone marrow's ability to produce blood cells.

Causes and Risk Factors

The exact cause of polycythemia vera is not known, but it is associated with a mutation in the JAK2 gene. This mutation leads to the overproduction of blood cells, which can increase the risk of blood clots and other complications. Risk factors for PV include:

  • Age: PV typically affects people over the age of 60
  • Family history: Having a family history of PV or other MPNs increases the risk
  • Genetic mutations: The JAK2 mutation is present in the majority of people with PV

Symptoms

The symptoms of polycythemia vera can vary, but common signs and symptoms include:

Diagnosis

Diagnosing polycythemia vera typically involves a combination of physical examination, medical history, laboratory tests, and imaging studies. The following tests may be used to diagnose PV:

  • Complete blood count (CBC) to measure the levels of red blood cells, white blood cells, and platelets
  • Blood smear to examine the appearance of blood cells
  • Genetic testing to detect the JAK2 mutation
  • Bone marrow biopsy or aspiration to examine the bone marrow for abnormal cell growth
  • Imaging studies, such as ultrasound or computed tomography (CT) scans, to evaluate the spleen and liver

Treatment

Treatment for polycythemia vera aims to reduce the risk of blood clots and other complications. The following treatments may be used:

  • Phlebotomy (bloodletting) to remove excess red blood cells and reduce blood viscosity
  • Medications, such as hydroxyurea or interferon, to slow down the production of blood cells
  • Aspirin to reduce the risk of blood clots
  • Cytoreductive therapy to reduce the number of blood cells
  • Allogeneic stem cell transplantation in some cases

Complications

If left untreated, polycythemia vera can lead to serious complications, including:

Prognosis

The prognosis for people with polycythemia vera varies depending on the individual's overall health and response to treatment. With proper management, many people with PV can lead active and normal lives. However, the condition can increase the risk of developing other blood disorders or malignancies over time.

Frequently Asked Questions (FAQs)

What is Polycythemia vera?
A rare blood disorder characterized by excessive production of red blood cells, white blood cells, and platelets.

What are the common symptoms of Polycythemia vera?
Headaches, dizziness, itching, redness or warmth in the hands and feet, and an increased risk of blood clots.

What causes Polycythemia vera?
Typically associated with a mutation in the JAK2 gene, although the exact cause is not fully understood.

How is Polycythemia vera diagnosed?
Through a combination of blood tests, bone marrow biopsy, and genetic testing for the JAK2 mutation.

What are the treatment options for Polycythemia vera?
May include phlebotomy, medications to reduce blood cell production, and low-dose aspirin to prevent blood clots.

Can Polycythemia vera increase the risk of blood clots?
Yes, due to the increased number of red blood cells, which can make the blood thicker and more prone to clotting.

Is Polycythemia vera a type of cancer?
Considered a type of myeloproliferative neoplasm, which is a group of disorders that affect blood cell production.

Can Polycythemia vera be inherited?
Rarely, although some cases may be associated with a family history of the condition.

What is the prognosis for people with Polycythemia vera?
Generally good with proper treatment, although the risk of complications such as blood clots and transformation to other blood disorders remains.

Are there any lifestyle changes that can help manage Polycythemia vera?
Staying hydrated, avoiding high-altitude areas, and avoiding activities that may increase the risk of bleeding or blood clots may be recommended.

Article last updated on: 18th October 2025.
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