Last reviewed: 5 Nov 2020
Last updated: 31 May 2018



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 (BCS)

Diagnostic investigations

1st investigations to order

  • haemoglobin
  • haematocrit
  • 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
  • haemoglobin-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


Associate Professor

Leukemia Department

Division of Cancer Medicine

The University of Texas MD Anderson Cancer Center




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


Department of Leukemia

Division of Cancer Medicine

The University of Texas MD Anderson Cancer Center




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 reviewersVIEW ALL

Associate Professor of Medicine

Innsbruck Medical University




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



None declared.

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