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Polycythaemia Vera: Causes, Symptoms & Treatment

Polycythaemia vera is a rare bone marrow disorder in which too many red blood cells are produced. It can lead to serious complications such as blood clots and stroke.

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Things worth knowing about "Polycythaemia vera"

Polycythaemia vera is a rare bone marrow disorder in which too many red blood cells are produced. It can lead to serious complications such as blood clots and stroke.

What is Polycythaemia Vera?

Polycythaemia vera (also spelled Polycythemia vera) is a chronic myeloproliferative neoplasm in which the bone marrow produces an excessive number of red blood cells (erythrocytes). White blood cells (leukocytes) and platelets (thrombocytes) are often elevated as well. The condition is chronic and, without treatment, can lead to life-threatening complications.

Causes

Polycythaemia vera is caused in the vast majority of cases by an acquired mutation in the JAK2 gene (Janus kinase 2), which plays a key role in regulating blood cell production. This mutation leads to uncontrolled overproduction of blood cells in the bone marrow. It is not inherited but arises spontaneously in a single stem cell during a person's lifetime.

JAK2-V617F mutation: detected in more than 95% of affected individuals
JAK2 exon 12 mutation: a rarer alternative
No confirmed external triggers (e.g., radiation or chemical exposure)

Symptoms

Symptoms arise mainly from increased blood viscosity (thickness) and impaired circulation:

Redness of the skin, especially on the face and hands (plethora)
Headaches, dizziness, and visual disturbances
Itching after bathing or showering (aquagenic pruritus)
Fatigue and general weakness
Burning or tingling in the hands and feet (erythromelalgia)
Enlarged spleen (splenomegaly)
Increased risk of thrombosis (blood clots), including stroke and heart attack

Diagnosis

Diagnosis is established through a combination of blood tests, molecular genetic testing, and bone marrow examination:

Full blood count: Elevated haematocrit, elevated red blood cell count, often also elevated white cells and platelets
JAK2 mutation test: Detection of the JAK2-V617F mutation in the blood
Bone marrow biopsy: Assessment of hypercellularity and abnormal cell proliferation
Erythropoietin level: Typically reduced in polycythaemia vera

Diagnosis follows the criteria established by the World Health Organization (WHO).

Treatment

The main goals of treatment are to reduce the risk of thrombosis and prevent disease-related complications. Therapy is tailored to the patient's age and risk profile:

Phlebotomy (Venesection)

Regular blood removal (phlebotomy) reduces haematocrit and blood viscosity. The target haematocrit is below 45%.

Medical Therapy

Hydroxyurea (hydroxycarbamide): Inhibits cell proliferation in the bone marrow; first-line therapy for high-risk patients
Interferon alfa: An alternative, especially for younger patients and during pregnancy
Ruxolitinib (JAK2 inhibitor): Used when other therapies are not tolerated or have failed
Low-dose aspirin: Recommended for most patients to reduce the risk of blood clots

Prognosis and Disease Course

Polycythaemia vera is not curable, but with modern therapy the disease can be well controlled. Regular medical follow-up is essential, as the condition may transform over time into myelofibrosis or, rarely, acute leukaemia.

References

Arber DA et al. - The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-2405.
Barbui T et al. - Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet. Leukemia. 2018;32(5):1057-1069.
McMullin MF et al. - A guideline for the diagnosis and management of polycythaemia vera. A British Society for Haematology Guideline. Br J Haematol. 2019;184(2):176-191.

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