Polycythemia vera natural history, complications, and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Mohamad Alkateb, MBBCh [2] Shyam Patel [3]
Overview
The natural history of polycythemia vera begins with symptoms such as headache, fatigue, and dyspnea. Common complications of polycythemia vera include thrombosis (such as deep vein thrombosis, pulmonary embolism, myocardial infarction, and stroke), bleeding, and splenomegaly. Prognosis is generally good with treatment, and the median survival for patients with polycythemia vera is around 10.9 to 27.8 years in the absence of complications. However, there is a variable risk for progression to myelofibrosis and acute myeloid leukemia, and these are the most devastating complications of the disease. Myelofibrosis and acute myeloid leukemia are part of the natural history of the disease.
Natural History
- The symptoms of polycythemia vera usually develop in the sixth decade of life and start with symptoms such as headache and fatigue.
- The cumulative risk of developing myelofibrosis is 4.9 to 6.0% at 10 years, 6-14% at 15 years, and 26% at 20 years from the initial diagnosis of polycythemia vera. This is in comparison to the risk of post-essential thrombocythemia (post-ET) myelofibrosis, for which the risk is 0.8% to 4.9% at 10 years and 4-11% at 15 years[1][2]
- The cumulative risk of developing acute myeloid leukemia is 2.3-14% at 10 years, 5.5-18% at 15 years, and greater than 10% at 20 years from the initial diagnosis of polycythemia vera. This is in comparison to the risk of post-ET acute myeloid leukemia, for which the risk is 0.7-3% at 10 years and 2.1-5.3% at 15 years.[1][2]
Complications
Polycythemia vera may lead to the following complications:[1][3][4][5][6][7]
- Most commmon type of thrombosis to occur in patients with polycythemia vera.
- Epistaxis: Bleeding can occur in the anterior or posterior circulation of the nasal cavity.
- Gingival bleeding: Bleeding gums is typically seen after brushing teeth.
- Menorrhagia: Pelvis bleeding commonly occurs in pre-menopausal females.
- Metrorrhagia: Irregular pelvic bleeding can occur in pre-menopausal females.
- Petechiae: Pinpoint hemorrhages can occur in the skin.
- Splenomegaly: Extramedullary hematopoiesis occurs when the bone marrow is unable to sustain normal cell production.
- Gout
- Peptic ulcer
- Myelofibrosis: This is a condition in which the bone marrow becomes replaced by collagen and reticulin fibers. When myelofibrosis occurs in the setting of polycythemia vera, it is referred to as post-polycythemia vera (post-PV) myelofibrosis. Myelofibrosis carries an overall poor prognosis given that collagen fibers preclude normal hematopoiesis, resulting in infections, bleeding, and fatigue.
- Acute myeloid leukemia: This is a malignancy of the hematopoietic stem cell (specifically myeloid precursors). It is characterized by clonal proliferation and resultant cytopenias and ineffective hematopoiesis. Patients typically die as a result of infections and/or bleeding.
Prognosis
- The median life expectancy for patients diagnosed with polycythemia vera exceeds 10 years.
- The prognosis of polycythemia vera is generally good with treatment. Without treatment, polycythemia vera will result in death.[8]
- Once myelofibrosis or acute myeloid leukemia ensues, the prognosis is very poor. Prognosis for post-PV myelofibrosis is adversely affected by older age, presence of leukocytosis, reticulin fibrosis, high JAK2 allele burden, splenomegaly, and history of venous thromboembolic events.[9] [2]
- Other risk factors for post-PV myelofibrosis include presence of baseline fibrotic change in the bone marrow, platelet count above 550,000/mcl, and masked polycythemia vera (presence of morphologic findings consistent with polycythemia vera on bone marrow biopsy but hemoglobin level below the threshold per WHO 2016 criteria.[2]
- Post-PV acute myeloid leukemia, adverse risk factors include older age, leukocytosis, splenomegaly, reticulin, abnormal and complex karyotype, p53 mutation, and RUNX1 mutation.[2]
Life expectancy
- After transformation of polycythemia vera to myelofibrosis, the median survival is approximately 5.7 years.[9]
- The median survival for patients with acute myeloid leukemia that has progressed from polycythemia vera is 5 months.[9]
- High-risk patients with polycythemia vera have an average survival of 10.9 years. Low-risk patients have an average survival of 27.8 years.[9]
- There is a 4.2-fold increase in the risk of death in the presence of any of the following risk factors[2]:
- Hemoglobin < 10 g/dl
- Platelet count < 100,000/mcl
- Leukocyte count > 30,000/mcl
- The 5-year survival rate is 17.3% for patients who develop post-PV myelofibrosis and have hemoglobin < 10 g/dl and age above 65 years.[2]
- In elderly patients compared to younger patients, leukemic transformation contributes to more deaths, suggesting that age of onset of leukemia is an important prognostic risk factor for life expectancy.[2]
References
- ↑ 1.0 1.1 1.2 Vannucchi AM (2017). "From leeches to personalized medicine: evolving concepts in the management of polycythemia vera". Haematologica. 102 (1): 18–29. doi:10.3324/haematol.2015.129155. PMC 5210229. PMID 27884974.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 Cerquozzi S, Tefferi A (2015). "Blast transformation and fibrotic progression in polycythemia vera and essential thrombocythemia: a literature review of incidence and risk factors". Blood Cancer J. 5: e366. doi:10.1038/bcj.2015.95. PMC 4670948. PMID 26565403.
- ↑ Zoraster RM, Rison RA (2013). "Acute embolic cerebral ischemia as an initial presentation of polycythemia vera: a case report". J Med Case Rep. 7: 131. doi:10.1186/1752-1947-7-131. PMC 3668271. PMID 23683307.
- ↑ Buzas C, Sparchez Z, Cucuianu A, Manole S, Lupescu I, Acalovschi M (2009). "Budd-Chiari syndrome secondary to polycythemia vera. A case report". J Gastrointestin Liver Dis. 18 (3): 363–6. PMID 19795034.
- ↑ Biagioni E, Pedrazzi P, Marietta M, Di Benedetto F, Villa E, Luppi M; et al. (2013). "Successful liver transplantation in a patient with splanchnic vein thrombosis and pulmonary embolism due to polycythemia vera with Jak2v617f mutation and heparin-induced thrombocytopenia". J Thromb Thrombolysis. 36 (3): 352–4. doi:10.1007/s11239-012-0832-5. PMID 23277116.
- ↑ Reikvam H, Tiu RV (2012). "Venous thromboembolism in patients with essential thrombocythemia and polycythemia vera". Leukemia. 26 (4): 563–71. doi:10.1038/leu.2011.314. PMID 22076463.
- ↑ "Erratum: Borderud SP, Li Y, Burkhalter JE, Sheffer CE and Ostroff JS. Electronic cigarette use among patients with cancer: Characteristics of electronic cigarette users and their smoking cessation outcomes. Cancer. doi: 10.1002/ cncr.28811". Cancer. 121 (5): 800. 2015. PMID 25855820.
- ↑ Tefferi A, Rumi E, Finazzi G, Gisslinger H, Vannucchi AM, Rodeghiero F; et al. (2013). "Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study". Leukemia. 27 (9): 1874–81. doi:10.1038/leu.2013.163. PMC 3768558. PMID 23739289.
- ↑ 9.0 9.1 9.2 9.3 Stein BL, Oh ST, Berenzon D, Hobbs GS, Kremyanskaya M, Rampal RK; et al. (2015). "Polycythemia Vera: An Appraisal of the Biology and Management 10 Years After the Discovery of JAK2 V617F". J Clin Oncol. 33 (33): 3953–60. doi:10.1200/JCO.2015.61.6474. PMC 4979103. PMID 26324368.