Last reviewed: 17 Sep 2021
Last updated: 28 Sep 2021

Summary

Definition

History and exam

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

Risk factors

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

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

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

Treatment algorithm

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.

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