Myelofibrosis is a reactive and reversible process common to many malignant and benign bone marrow disorders.
Primary myelofibrosis (PMF) is a chronic progressive myeloproliferative disorder with a median survival (around 5.5 years) much shorter than that of other myeloproliferative disorders. However, PMF survival is heterogeneous, ranging from <1 year to >30 years.
Leukoerythroblastosis and splenomegaly are the clinical hallmarks of PMF.
Death is usually due to bone marrow failure (haemorrhage, anaemia, or infection), transformation to acute leukaemia, portal or pulmonary hypertension, heart failure, cachexia, or myeloid metaplasia with organ failure.
Asymptomatic, low-risk patients without hyperuricaemia or a remedial cause for anaemia require no therapy.
Haematopoietic stem cell transplant is the only treatment option with a potential for cure.
Myelofibrosis is a reactive and reversible process common to many malignant and benign bone marrow disorders. It is characterised by abnormal production of red blood cells, white blood cells, and platelets, in association with marrow fibrosis (scarring) and extramedullary haematopoiesis. It can present de novo as primary myelofibrosis (PMF), a chronic progressive myeloproliferative disorder with its origin in a multipotent haematopoietic progenitor cell. The aetiology of PMF is unknown, and a specific clonal marker has not been identified. Leukoerythroblastosis and splenomegaly are the clinical hallmarks of PMF. When fibrosis in the bone marrow is due to a known diagnosis such as leukaemia, hypoparathyroidism, or drugs, it is called secondary or reactive myelofibrosis.
History and exam
- 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
- ultrasound of suspected site
- technetium 99 scan
- CT of suspected site
- MRI of suspected site
- serum uric acid
Professor of Medicine and Oncology
Division of Hematology
Johns Hopkins University School of Medicine
JLS is an author of a reference cited in this topic and is a consultant for Incyte.
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.
Professor and Consultant in Haematology
Royal Hallamshire Hospital
JTR is an author of a number of references cited in this topic.
Director of the Laboratory of Clinical Epidemiology
IRCCS Policlinico S. Matteo Foundation
GB declares that he has no competing interests.
Myeloproliferative Disorders Program Specialist
Department of Medicine
Division of Hematology and Medical Oncology
Weill Cornell Medical College
RS is an author of a reference cited in this topic.
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 external link opens in a new windowMore guidelines
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