Diagnosis

Approximately 30% of PV cases are diagnosed following a thrombotic complication.6 However, in many patients, it is detected when an elevated hematocrit is noted during a routine medical examination.5


Patients with suspected PV must undergo a careful clinical examination to rule out other possible causes of erythrocytosis, including other MPNs.5

 
 

Diagnostic Criteria

The differential diagnosis of PV, as with other MPNs, is important because it guides patient management during follow-up and has an impact on prognosis.12 To aid diagnosis in clinical practice, the World Health Organization (WHO) has established the following diagnostic criteria for PV.1

 
 

Testing

The diagnostic approach to PV typically includes tests to measure red blood cell volume and serum erythropoietin (EPO) levels.5,6

 

A complete blood cell count (CBC) is usually obtained to assess hemoglobin levels and hematocrit and to distinguish PV-related panmyeloproliferation from isolated erythrocytosis.6

 
 

Red blood cell mass measurement is not commonly used, but it may help identify patients with borderline erythrocytosis who do not meet the threshold for elevated hemoglobin levels or hematocrit.12

 

The emergence of JAK2 mutations as diagnostic markers in PV has greatly simplified the diagnosis because they are present in 99% of patients with PV.1,13 As a result, genetic testing is now often performed, in addition to the traditional tests, to distinguish PV from other causes of erythrocytosis.5

 
 
 
 
 

References

  • Swerdlow SH, Campo E, Harris NL, et al. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. 4th ed. Lyon, France: IARC Press; 2008.
  • Rollison DE, Howlader N, Smith MT, et al. Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001-2004, using data from the NAACCR and SEER programs. Blood. 2008;112(1):45-52.
  • Stuart BJ, Viera AJ. Polycythemia vera. Am Fam Physician. 2004;69(9):2139-2144.
  • Levine RL, Pardanani A, Tefferi A, Gilliland DG. Role of JAK2 in the pathogenesis and therapy of myeloproliferative disorders. Nat Rev Cancer. 2007;7(9):673-683.
  • Landolfi R, Nicolazzi MA, Porfidia A, Di Gennaro L. Polycythemia vera. Intern Emerg Med. 2010;5(5):375-384.
  • Passamonti F. How I treat polycythemia vera. Blood. 2012;120(2):275-284.
  • Scherber R, Dueck AC, Johansson P, et al. The Myeloproliferative Neoplasm Symptom Assessment Form (MPN-SAF): international prospective validation and reliability trial in 402 patients. Blood. 2011;118(2):401-408.
  • Falanga A, Marchetti M. Thrombotic disease in the myeloproliferative neoplasms. Hematology Am Soc Hematol Educ Program. 2012;2012:571-581.
  • Marchioli R, Finazzi G, Landolfi R, et al. Vascular and neoplastic risk in a large cohort of patients with polycythemia vera. J Clin Oncol. 2005;23(10):2224-2232.
  • Hasselbalch HC. The role of cytokines in the initiation and progression of myelofibrosis. Cytokine Growth Factor Rev. 2013;24(2):133-145.
  • Emanuel RM, Dueck AC, Geyer HL, et al. Myeloproliferative Neoplasm (MPN) Symptom Assessment Form Total Symptom Score: prospective international assessment of an abbreviated symptom burden scoring system among patients with MPNs. J Clin Oncol. 2012;30(33):4098-4103.
  • Silver RT, Chow W, Orazi A, Arles SP, Goldsmith SJ. Evaluation of WHO criteria for diagnosis of polycythemia vera: a prospective analysis. Blood. 2013;122(11):1881-1886.
  • Tefferi A. Mutations galore in myeloproliferative neoplasms: would the real Spartacus please stand up? Leukemia. 2011;25(7):1059-1063.
  • Leukemia & Lymphoma Society. Polycythemia vera facts. http://www.lls.org/content/nationalcontent/resourcecenter/freeeducationmaterials/mpd/pdf/polycythemiavera.pdf. Accessed October 10, 2014.
  • Marchioli R, Finazzi G, Specchia G, et al. Cardiovascular events and intensity of treatment in polycythemia vera. N Engl J Med. 2013;368(1):22-33.
  • Mesa RA, Tefferi A. Emerging drugs for the therapy of primary and post essential thrombocythemia, post polycythemia vera myelofibrosis. Expert Opin Emerg Drugs. 2009;14(3):471-479.
  • Barbui T, Barosi G, Birgegard G, et al. Philadelphia-negative classical myeloproliferative neoplasms: critical concepts and management recommendations from European LeukemiaNet. J Clin Oncol. 2011;29(6):761-770.
  • Finazzi G, Barbui T. How I treat patients with polycythemia vera. Blood. 2007;109(12):5104-5111.
  • Alvarez-Larrán A, Pereira A, Cervantes F, et al. Assessment and prognostic value of the European LeukemiaNet criteria for clinicohematologic response, resistance, and intolerance to hydroxyurea in polycythemia vera. Blood. 2012;119(6):1363-1369.
  • Tefferi A, Rumi E, Finazzi G, et al. Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia. 2013;27:1874-1881.
  • Tefferi A. Essential thrombocythemia, polycythemia vera, and myelofibrosis: current management and the prospect of targeted therapy. Am J Hematol. 2008;83(6):491-497.
  • Passamonti F, Rumi E, Pietra D, et al. A prospective study of 338 patients with polycythemia vera: the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia. 2010;24(9):1574-1579.
  • Passamonti F, Rumi E, Caramella M, et al. A dynamic prognostic model to predict survival in post-polycythemia vera myelofibrosis. Blood. 2008;111(7):3383-3387.