Polycythemia vera

Last reviewed: 4 Jun 2022
Last updated: 25 Feb 2022

Summary

Definition

History and exam

Key diagnostic factors

  • features of thrombosis
More key diagnostic factors

Other diagnostic factors

  • features of hemorrhage
  • asymptomatic
  • headache
  • generalized weakness/fatigue
  • pruritus
  • night sweats and bone pain
  • erythromelalgia
  • redness of fingers, palms, toes, heels
  • facial redness
  • splenomegaly
Other diagnostic factors

Risk factors

  • affected family member
  • age >40 years
  • Budd-Chiari syndrome (BCS)
More risk factors

Diagnostic investigations

1st investigations to order

  • hemoglobin
  • hematocrit
  • white blood cell (WBC) count
  • platelet count
  • mean corpuscular volume (MCV)
  • liver function tests (LFTs)
  • JAK2 gene mutation screen
More 1st investigations to order

Investigations to consider

  • oxygen saturation
  • hemoglobin-oxygen affinity (P50)
  • serum erythropoietin
  • red blood cell (RBC) mass
  • testing for genomic abnormalities other than JAK2
  • serum ferritin
  • serum uric acid
  • ultrasound of abdomen
  • endogenous erythroid colonies
  • bone marrow biopsy
  • vascular imaging
More investigations to consider

Treatment algorithm

ACUTE

nonpregnant adults: low/intermediate risk for thrombosis without marked thrombocytosis

nonpregnant adults: high risk for thrombosis without marked thrombocytosis

nonpregnant adults: with marked thrombocytosis

pregnant

children

ONGOING

nonpregnant adults: intolerant of other therapies (including hydroxyurea, ruxolitinib, and interferon), or of very advanced age, or with short life expectancy

Contributors

Authors

Prithviraj Bose, MD

Associate Professor

Leukemia Department

Division of Cancer Medicine

The University of Texas MD Anderson Cancer Center

Houston

TX

Disclosures

PB has consulted for Incyte and delivered lectures and other educational events for Incyte and Celgene (now BMS). He has participated in advisory boards for Incyte, Celgene (now BMS), Blueprint Medicines, CTI Biopharma and Kartos. PB has received grants from Incyte, Celgene (now BMS), Blueprint Medicines, CTI Biopharma, Kartos, Constellation, Astellas, Pfizer, NS Pharma and Promedior.

Srdan Verstovsek, MD, PhD

Professor

Department of Leukemia

Division of Cancer Medicine

The University of Texas MD Anderson Cancer Center

Houston

TX

Disclosures

SV declares that he has no competing interests.

Acknowledgements

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

Disclosures

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

NY

Disclosures

None declared.

  • Differentials

    • Secondary polycythemia owing to hypoxia
    • Essential thrombocythemia (ET)
    • Chronic myelogenous leukemia (CML)
    More Differentials
  • Guidelines

    • NCCN clinical practice guidelines in oncology: myeloproliferative neoplasms
    • Diagnosis and management of polycythaemia vera
    More Guidelines
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer