Last reviewed: November 2017
Last updated: June  2016

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • features of thrombosis

Other diagnostic factors

  • features of haemorrhage
  • asymptomatic
  • headache
  • generalised weakness/fatigue
  • pruritus
  • erythromelalgia
  • redness of fingers, palms, toes, heels
  • facial redness
  • splenomegaly

Risk factors

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

Diagnostic investigations

1st investigations to order

  • haemoglobin
  • haematocrit
  • WBC count
  • platelet count
  • MCV
  • LFTs
  • JAK2 gene mutation screen
Full details

Investigations to consider

  • oxygen saturation
  • serum erythropoietin
  • 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
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Assistant Professor

Leukemia Department

Division of Cancer Medicine

The University of Texas MD Anderson Cancer Center

Houston

TX

Disclosures

PB has received research support from Incyte and honorarium for a single advisory board participation.

Professor

Department of Leukemia

Division of Cancer Medicine

The University of Texas MD Anderson Cancer Center

Houston

TX

Disclosures

SV has received research support from Incyte Corporation, Astrazeneca, Lilly Oncology, Roche, Geron, NS Pharma, Bristol Myers Squibb, Celgene, Gilead, Seattle Genetics, Promedior, CTI BioPharma Corp., Galena BioPharma, Pfizer, Genentech, and Blueprint Pharmaceuticals.

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

Peer reviewers VIEW ALL

Associate Professor of Medicine

Innsbruck Medical University

Innsbruck

Austria

Disclosures

CP declares that he has no competing interests.

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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