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:

• Fatigue or weakness
• Headaches
• Dizziness or lightheadedness
• Itching or burning sensations in the skin
• Redness or warmth of the skin, especially on the face and hands
• Numbness or tingling in the hands and feet
• Enlargement of the spleen (splenomegaly)

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:

• Blood clots (thrombosis)
• Stroke or transient ischemic attack (TIA)
• Heart attack or myocardial infarction
• Pulmonary embolism
• Splenomegaly and splenic rupture
• Secondary malignancies, such as acute myeloid leukemia (AML) or myelofibrosis

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.