Polycythemia Vera: New perspectives in the treatment of rare blood disease

Polycythemia Vera (PV) is a rare and chronic disease of the characterized by excessive production of blood cells – especially red blood cells – by bone marrow. This overproduction makes blood thicker and slower, which significantly increases the risk of blood clots, heart attacks, strokes and embolism. PV is part of the group of myeloproliferative neoplasms and is generally associated with a mutation in the Jak2 gene, present in more than 95% of cases.

Although it is a rare condition, with an estimated incidence between 1.5 and 3 cases per 100,000 inhabitants per year, its impact on quality of life and risk of serious complications makes early diagnosis and proper control.

Risk classification defines treatment

The choice of PV treatment is mainly guided by the thrombotic risk stratification. Patients are classified into two groups:

• Low risk: age up to 60 years and without history of thrombosis
• High risk: age over 60 years and/or history of arterial or venous thrombosis

Low -risk patients are usually treated with bleeding and aspirin. High -risk ones benefit from additional treatment with cyorreductors such as hydroxyurea, caught interferon or ruxolitinib.

Between tradition and innovation

Historically, PV treatment is based on therapeutic bleeding (phlebotomies) and the use of low -dose acetylsalicylic acid to reduce the risk of thrombosis. Sangrias, although simple, are tiring and repetitive, requiring frequent visits to health service and may cause symptoms such as fatigue, hypotension and iron deficiency.

For patients with higher thrombotic risk, treatment includes medications that reduce blood cell production:

• Hydroxyurea: First line in older patients. Orally administered, it is effective, but can cause skin effects and rarely chromosomal changes
• RUXOLITINIBE (JAKAVI®): Suitable for cases of resistance or hydroxyurea intolerance. Improves symptoms such as itching, fatigue and splenomegaly, but requires monitoring
• Ropeginterferon Alfa-2B: Pegilated interferon of biweekly or monthly application. It can reduce the jak2 mutation load and modify the course of the disease. Is ideal for young patients and women with gestational desire, and should occupy the first line in cases of high risk

The Future: End of Bloods?

A new and promising research in research is Rusfertide, a melehetic peptide of hepcidine – a hormone that regulates iron in the body. By limiting iron availability, it reduces red blood cell production. Clinical studies indicated effective hematocrit control and symptom relief without the need for bleeding. A phase III study was presented in the last edition of ASCO 2025, reinforcing its potential to change the treatment paradigm.

Advances that offer more quality of life

PV is a controllable disease with specialized follow -up. The emergence of therapies such as ropeginterferon alpha-2B and Rusfertide represents an important advance, allowing less invasive treatments with greater potential to modify the natural history of the disease, promoting more well-being and safety for patients.

* Por Nelson Hamer copies – CRM 34315 / RQE 1916
Hematologist at Hospital Israelita Albert Einstein
Coordinator of the Scientific Committee of Abrale (Brazilian Association of Lymphomas and Leukemias)

References

1. Tefferi A, Vannucchi AM, Barbui T. Polycythemia Vera and Essential Thrombocythemia: 2021 Update on Diagnosis, Risk-Stratification and Management. Am J Hematol.
   2. Gisslinger H, et al. Ropeginterferon alfa-2b versus standard therapy for polycythemia vera (PROUD-PV and CONTINUATION-PV): a randomised, phase 3 trial. Lancet Haematol. 2020.
   3. Clinical Care Pathway – Policitemia Vera. Hospital Israelita Albert Einstein.
   4. Greenfield G, et al. Molecular pathogenesis of the myeloproliferative neoplasms. J Hematol Oncol. 2021.
   5. Asco 2025. Phase III clinical study in Rusfertide.