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Polycythemia vera

Last updated: November 4, 2020

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Polycythemia vera (PV) is a chronic myeloproliferative neoplasm that is characterized by an erythropoietin-independent, irreversible increase in erythrocyte, granulocyte, and platelet counts. The elevated blood cell mass results in hyperviscosity, which is associated with slow blood flow and an increased risk of thrombosis. The disorder typically initially has a long asymptomatic period, then assumes a chronic, insidious course. Clinical features include facial flushing, pruritus, erythromelalgia, headaches, and dizziness. Severe complications such as thrombotic events (e.g., stroke, Budd-Chiari syndrome) may occur. Since PV is an incurable disorder, the primary goals of management involve controlling RBC mass and reducing the risk of thrombotic complications. Periodic phlebotomy reduces the amount of circulating cells and is therefore the treatment of choice.


References:[1][2][3]

Patients with PV are at increased risk of thrombosis and bleeding.
References:[2][5][6][7][8][9]

Laboratory findings

Diagnostic criteria (WHO 2016) [10][11]

A diagnosis of polycythemia vera requires:

  • All three major criteria
    OR
  • The first two major criteria AND the minor criterion
Major criteria
  1. Evidence of increased RBCs
  2. Bone marrow biopsy showing hypercellularity with trilineage growth (increased erythropoiesis, granulopoiesis, and megakaryopoiesis)
  3. Evidence of a genetic mutation in the JAK2 gene
Minor criterion
  • EPO levels

References:[2][12][13]

Secondary erythrocytosis

EPO Expected plasma volume RBC mass Oxygen saturation Underlying conditions
Relative polycythemia ↔︎ ↔︎ / ↑ ↔︎
Absolute polycythemia
Appropriate absolute polycythemia ↔︎
  • High-altitude exposure
  • Hypoxia: chronic pulmonary and cardiac disease
Inappropriate absolute polycythemia ↑↑ ↔︎ ↔︎

References:[14]

The differential diagnoses listed here are not exhaustive.

  • Phlebotomy: periodic removal of blood via venapuncture temporarily reduces cell counts and hyperviscosity.
    • 250–500 mL in intervals of 2–3 days until a HCT of ≤ 0.45 is established[15]
  • Antiplatelet prophylaxis: aspirin
  • Cytoreductive therapy: determined on an individual basis; recommended if risk factors are present

If platelet count is > 1 million/μL, platelet function is very likely to be impaired, and the risk of bleeding is significantly increased. Aspirin should be discontinued!

References:[15][16][17]

Polycythemia vera is a life-threatening disease because of the numerous complications associated with it.

Thrombotic complications

Hemorrhagic complications

Late stages

References:[2][5][11][17]

We list the most important complications. The selection is not exhaustive.

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  2. Nagalla S. Polycythemia Vera. Polycythemia Vera. New York, NY: WebMD. http://emedicine.medscape.com/article/205114-overview. Updated: December 2, 2016. Accessed: April 14, 2017.
  3. Khattak SA, Ahmed S, Anwar J, Bozdar M. Frequency of Janus associated kinase 2 (V617F) mutation in patients of polycythemia vera.. J Coll Physicians Surg Pak. 2012; 22 (2): p.80-3.
  4. Wollina U. Burning feet in polycythemia vera – peripheral sensorimotor axonal neuropathy with erythromelalgia. International Journal of General Medicine. 2015 : p.69. doi: 10.2147/ijgm.s78848 . | Open in Read by QxMD
  5. Raedler LA. Diagnosis and Management of Polycythemia Vera: Proceedings from a Multidisciplinary Roundtable. Am Health Drug Benefits. 2014; 7 (7 Suppl 3): p.S36-47.
  6. Jackson N, Burt D, Crocker J, Boughton B. Skin mast cells in polycythaemia vera relationship to the pathogenesis and treatment of pruritus. Br J Dermatol. 1987; 116 (1): p.21–29. doi: 10.1111/j.1365-2133.1987.tb05787.x . | Open in Read by QxMD
  7. Saini KS, Patnaik MM, Tefferi A. Polycythemia vera-associated pruritus and its management. Eur J Clin Invest. 2010; 40 (9): p.828-834. doi: 10.1111/j.1365-2362.2010.02334.x . | Open in Read by QxMD
  8. Saliba AN. Erythromelalgia. Erythromelalgia. New York, NY: WebMD. http://emedicine.medscape.com/article/200071-overview. Updated: November 17, 2016. Accessed: April 14, 2017.
  9. Martin L. Cyanosis. In: Mosenifar Z, Cyanosis. New York, NY: WebMD. https://emedicine.medscape.com/article/303533-overview. Updated: December 11, 2015. Accessed: November 6, 2017.
  10. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016; 127 (20): p.2391-2405. doi: 10.1182/blood-2016-03-643544 . | Open in Read by QxMD
  11. Tefferi A. Clinical manifestations and diagnosis of polycythemia vera. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-polycythemia-vera.Last updated: November 3, 2016. Accessed: April 14, 2017.
  12. Polycythemia Vera. https://www.msdmanuals.com/en-gb/professional/hematology-and-oncology/myeloproliferative-disorders/polycythemia-vera. Updated: December 1, 2016. Accessed: April 14, 2017.
  13. Tefferi A, Vardiman JW. Classification and diagnosis of myeloproliferative neoplasms: the 2008 World Health Organization criteria and point-of-care diagnostic algorithms. Leukemia. 2007; 22 (1): p.14-22. doi: 10.1038/sj.leu.2404955 . | Open in Read by QxMD
  14. Tefferi A. Diagnostic approach to the patient with polycythemia. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/diagnostic-approach-to-the-patient-with-polycythemia.Last updated: February 15, 2017. Accessed: April 14, 2017.
  15. Marchioli R, Finazzi G, Specchia G, et al. Cardiovascular events and intensity of treatment in polycythemia vera. N Engl J Med. 2013; 368 (1): p.22-33. doi: 10.1056/NEJMoa1208500 . | Open in Read by QxMD
  16. Le T, Bhushan V, Chen V, King M. First Aid for the USMLE Step 2 CK. McGraw-Hill Education ; 2015
  17. Tefferi A. Prognosis and treatment of polycythemia vera. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/prognosis-and-treatment-of-polycythemia-vera.Last updated: July 11, 2016. Accessed: April 14, 2017.