Summary
Definition
History and exam
Key diagnostic factors
- presence of risk factors
- constitutional symptoms (weight loss, night sweats, low-grade fever, cachexia, fatigue, and pruritus)
- splenomegaly ± hepatomegaly
- features of extramedullary haematopoiesis
Other diagnostic factors
- features of portal hypertension
- symptoms of pulmonary hypertension
- joint and bone pain
- hearing loss
- bleeding
- infections
Risk factors
- radiation exposure
- industrial solvents exposure
- age >65 years
Diagnostic investigations
1st investigations to order
- FBC with differential
- peripheral blood smear
- bone marrow aspiration
- bone marrow biopsy
Investigations to consider
- genetic mutation analysis (JAK2 V617F, calreticulin [CALR], MPL)
- breakpoint cluster region-abelson polymerase chain reaction (BCR-ABL PCR)
- chromosomal assessment in bone marrow examination
- CD34+ cell count
- antinuclear antibodies
- rheumatoid factor titre
- complement levels
- Coombs' test
- echocardiogram
- ultrasound of suspected site
- technetium 99 scan
- CT of suspected site
- MRI of suspected site
- serum uric acid
Treatment algorithm
asymptomatic
symptomatic: aged <50 years and suitable for stem cell transplant
symptomatic: aged ≥50 years and suitable for stem cell transplant
symptomatic: 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 a reference cited in this topic and is a consultant for Incyte.
Acknowledgements
Professor Jerry Spivak would like to gratefully acknowledge Dr Ashkan Emadi, a previous contributor to this topic. 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 a number of 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
- Polycythaemia vera
- Essential thrombocythaemia
- Chronic myelogenous leukaemia
More DifferentialsGuidelines
- Use of JAK inhibitors in the management of myelofibrosis: a revision of the British Committee for Standards in Haematology guidelines for investigation and management of myelofibrosis 2012
- Guideline for the diagnosis and management of myelofibrosis
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