Polycythemia vera

Overview 
Theory 
Diagnosis 
Management 
Follow up 
Resources 

Last reviewed: 8 Apr 2025

Last updated: 03 Dec 2024

Polycythemia vera (PV) is generally a disease of middle and older age.

Carries increased risks of thrombosis, hemorrhage, progression to myelofibrosis, and transformation to acute leukemia.

Life expectancy is reported to be modestly reduced compared with that of the general population. Leading causes of death are cardiovascular complications (including thrombosis and hemorrhage) and transformation to acute myeloid leukemia.

Diagnosis is strongly associated with the presence of the JAK2 V617F mutation, although this mutation is not specific for PV.

Treatment is based on stratification for risk of thrombosis, and includes low-dose aspirin and phlebotomy for all patients. High-risk patients also receive cytoreductive therapy.

Definition

PV is a chronic myeloproliferative neoplasm. It is characterized by hematopoietic stem cell-derived clonal myeloproliferation that results in erythrocytosis and often thrombocytosis, leukocytosis, and splenomegaly.[1] PV is associated with an increased risk of thrombosis and hemorrhage.[2]

PV may progress to spent phase (post-PV myelofibrosis) and, uncommonly, to a devastating acute leukemia. Diagnosis is strongly associated with the presence of the Janus kinase 2 (JAK2) V617F somatic driver mutation, although this mutation is not specific for PV.[3][4][5][6]

History and exam

Key diagnostic factors

features of thrombosis

Full details

Other diagnostic factors

features of hemorrhage
headache
generalized weakness/fatigue
pruritus
night sweats and bone pain
erythromelalgia
splenomegaly
plethora/ruddy cyanosis
tinnitus
blurry vision
arthralgia
abdominal discomfort
hyperhidrosis (excessive sweating)

Full details

Risk factors

age >60 years
history of Budd-Chiari syndrome (BCS)
affected family member
Janus kinase 2 (JAK2) mutations (JAK2 V617F and JAK2 exon 12)

Full details

Diagnostic tests

1st tests to order

hemoglobin
hematocrit
white blood cell (WBC) count
platelet count
mean corpuscular volume (MCV)
peripheral blood smear
liver function tests (LFTs)
serum ferritin
JAK2 gene mutation testing
bone marrow biopsy

Full details

Tests to consider

oxygen saturation
serum erythropoietin
red blood cell (RBC) mass
further mutational testing
cytogenetic and molecular testing: BCR::ABL1
serum uric acid
abdominal imaging
vascular imaging

Full details

Treatment algorithm

ACUTE

nonpregnant adults: low risk for thrombosis without marked thrombocytosis (platelet count <1000 × 10³/microliter [<1000 × 10⁹/L])

nonpregnant adults: high risk for thrombosis without marked thrombocytosis (platelet count <1000 × 10³/microliter [<1000 × 10⁹/L])

nonpregnant adults: with marked thrombocytosis (platelet count ≥1000 × 10³/microliter [≥1000 × 10⁹/L])

pregnant

children

ONGOING

nonpregnant adults: high risk of thrombosis and intolerant or resistant to first- and second-line cytoreductive therapy

Contributors

Authors

Prithviraj Bose, MD

Professor

Leukemia Department

Division of Cancer Medicine

The University of Texas MD Anderson Cancer Center

Houston

Disclosures

PB has received research support from Incyte, BMS, CTI BioPharma, Cogent BioSciences, Blueprint Medicines, Ionis, Disc Medicine, Morphosys, Kartos, Telios, Sumitomo Pharma, Promedior and NS Pharma, and consulting fees/honoraria from Incyte, BMS, CTI BioPharma, GSK, Abbvie, Morphosys, Cogent BioSciences, Blueprint Medicines, Novartis, Pharma Essentia, and Karyopharm Therapeutics.

Pankit Vachhani, MD

Associate Professor

Division of Hematology/Oncology

Department of Medicine

University of Alabama at Birmingham

Birmingham

Disclosures

PV has received consulting fees/honoraria from Abbvie, Amgen, Blueprint Medicines, Cogent Biosciences, Incyte, CTI BioPharma Corp (now Sobi), GlaxoSmith Kline, Karyopharm, Merck, Novartis, Pfizer, Genentech, Stemline, and MorphoSys. He has received speaking engagement fees from Incyte and Blueprint Medicines.

Acknowledgements

The authors would like to gratefully acknowledge Dr Srdan Verstovsek, Dr Constantine Tam, Dr Scott J. Samuelson, and Dr Josef T. Prchal, previous contributors to this topic.

Disclosures

SV, CT, SJS, and JTP declare that they have no competing interests.

Peer reviewers

Christopher Pechlaner, MD

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

Disclosures

CP declares that he has no competing interests.

Ross Levine, MD

Assistant Member

Human Oncology and Pathogenesis Program Leukemia Service

Department of Medicine

Memorial Sloan Kettering Cancer Center

New York

Disclosures

None declared.

References

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Key articles

McMullin MF, Harrison CN, Ali S, et al. A guideline for the diagnosis and management of polycythaemia vera: a British Society for Haematology guideline. Br J Haematol. 2019 Jan;184(2):176-91. Abstract

National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology: myeloproliferative neoplasms [internet publication].Full text

Tefferi A, Barbui T. Polycythemia vera: 2024 update on diagnosis, risk-stratification, and management. Am J Hematol. 2023 Sep;98(9):1465-87.Full text Abstract

Barbui T, Tefferi A, Vannucchi AM, et al. Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet. Leukemia. 2018 May;32(5):1057-69. Abstract

Vannucchi AM, Barbui T, Cervantes F, et al; ESMO Guidelines Committee. Philadelphia chromosome-negative chronic myeloproliferative neoplasms: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2015 Sep;26 Suppl 5:v85-99.Full text Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

Differentials
- Secondary polycythemia owing to hypoxia
- Essential thrombocythemia (ET)
- Primary myelofibrosis
More Differentials
Guidelines
- NCCN clinical practice guidelines in oncology: myeloproliferative neoplasms
- The 5th edition of the World Health Organization (WHO) classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms
More Guidelines
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Polycythemia vera

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic tests

1st tests to order

Tests to consider

Treatment algorithm

nonpregnant adults: low risk for thrombosis without marked thrombocytosis (platelet count <1000 × 10³/microliter [<1000 × 10⁹/L])

nonpregnant adults: high risk for thrombosis without marked thrombocytosis (platelet count <1000 × 10³/microliter [<1000 × 10⁹/L])

nonpregnant adults: with marked thrombocytosis (platelet count ≥1000 × 10³/microliter [≥1000 × 10⁹/L])

pregnant

children

nonpregnant adults: high risk of thrombosis and intolerant or resistant to first- and second-line cytoreductive therapy

Contributors

Authors

Prithviraj Bose, MD

Disclosures

Pankit Vachhani, MD

Disclosures

Acknowledgements

Disclosures

Peer reviewers

Christopher Pechlaner, MD

Disclosures

Ross Levine, MD

Disclosures

References

Key articles

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

Differentials

Guidelines

Log in or subscribe to access all of BMJ Best Practice

Log in or subscribe to access all of BMJ Best Practice

Log in to access all of BMJ Best Practice