Summary
Definition
History and exam
Key diagnostic factors
- features of thrombosis
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
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
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 DifferentialsGuidelines
- NCCN clinical practice guidelines in oncology: myeloproliferative neoplasms
- Diagnosis and management of polycythaemia vera
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