Summary
Definition
History and exam
Key diagnostic factors
- history of radiation exposure
- history of industrial solvents exposure
- symptoms of anemia (fatigue, weakness, dyspnea, palpitations)
- constitutional symptoms (weight loss, night sweats, low-grade fever, cachexia, fatigue, and pruritus)
- splenomegaly ± hepatomegaly
- features of extramedullary hematopoiesis
Other diagnostic factors
- features of portal hypertension
- joint and bone pain
- hearing loss
- bleeding
- infections
Risk factors
- radiation exposure
- industrial solvents exposure
- age ≥65 years
- cytogenetic abnormalities
Diagnostic investigations
1st investigations to order
- CBC with differential
- peripheral blood smear
- bone marrow aspiration
- bone marrow biopsy
Investigations to consider
- genetic mutation analysis (including JAK2 V617F, calreticulin [CALR], MPL)
- fluorescence in situ hybridization (FISH) or breakpoint cluster region-abelson polymerase chain reaction (PCR)
- bone marrow cytogenetic analysis
- echocardiogram
- ultrasound of suspected site
- technetium 99 scan
- CT of suspected site
- MRI of suspected site
- serum uric acid
- antinuclear antibodies
- rheumatoid factor titer
- complement levels
- Coombs test
Treatment algorithm
lower risk: asymptomatic
lower risk: symptomatic
higher risk: ages <50 years and suitable for stem cell transplant
higher risk: ages ≥50 years and suitable for stem cell transplant
higher risk: not suitable for stem cell transplant
Contributors
Authors
Jerry L. Spivak, MD

Professor of Medicine and Oncology
Division of Hematology
Johns Hopkins University School of Medicine
Baltimore
MD
Disclosures
JLS is an author of several references cited in this topic.
Acknowledgements
Professor Jerry Spivak would like to gratefully acknowledge Dr Ashkan Emadi, a previous contributor to this topic.
Disclosures
AE declares that he has no competing interests.
Peer reviewers
John T. Reilly, BSc, MD, FRCP, FRCPATH
Professor and Consultant in Haematology
Royal Hallamshire Hospital
Sheffield
UK
Disclosures
JTR is an author of several references cited in this topic.
Giovanni Barosi, MD
Director of the Laboratory of Clinical Epidemiology
IRCCS Policlinico S. Matteo Foundation
Pavia
Italy
Disclosures
GB declares that he has no competing interests.
Richard Silver, MD
Myeloproliferative Disorders Program Specialist
Department of Medicine
Division of Hematology and Medical Oncology
Weill Cornell Medical College
New York
NY
Disclosures
RS is an author of a reference cited in this topic.
Differentials
- Polycythemia vera
- Essential thrombocythemia
- Chronic myeloid leukemia
More DifferentialsGuidelines
- NCCN clinical practice guidelines in oncology: myeloproliferative neoplasms
- NCCN clinical practice guidelines in oncology: hematopoietic cell transplantation (HCT)
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