Summary
Definition
History and exam
Key diagnostic factors
- features of thrombosis
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)
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)
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
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
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
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, 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
AL
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
NY
Disclosures
None declared.
Differentials
- Secondary polycythemia owing to hypoxia
- Essential thrombocythemia (ET)
- Primary myelofibrosis
More DifferentialsGuidelines
- 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
Log in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer