Polycythaemia vera (PV) is generally a disease of middle and older age.
Carries increased risks of thrombosis, haemorrhage, progression to myelofibrosis, and transformation to acute leukaemia. Survival is shorter than that of the general population; leading cause of death is cardiovascular complications (including thrombosis and haemorrhage).
Diagnosis is strongly associated with the presence of the JAK2 V617F mutation, although this mutation is not specific for PV.
Treatment is based on stratification for risk of thrombosis, and includes low-dose aspirin and phlebotomy for all patients. High-risk patients also receive cytoreductive therapy.
Ongoing and future studies will be required to further define disease aetiology and appropriate therapy.
PV belongs to the group of Philadelphia chromosome-negative myeloproliferative neoplasms. It is a clonal haematopoietic disorder characterised clinically by erythrocytosis and often thrombocytosis, leukocytosis, and splenomegaly. It is associated with an increased risk of thrombosis and haemorrhage. It may progress to spent phase (post-PV myelofibrosis) and, uncommonly, to a devastating acute leukaemia. Diagnosis is strongly associated with the presence of the JAK2 V617F somatic mutation.
History and exam
Key diagnostic factors
- presence of risk factors
- features of thrombosis
Other diagnostic factors
- features of haemorrhage
- generalised weakness/fatigue
- night sweats and bone pain
- redness of fingers, palms, toes, heels
- facial redness
- affected family member
- age >40 years
- Budd-Chiari syndrome (BCS)
1st investigations to order
- white blood cell (WBC) count
- platelet count
- mean corpuscular volume (MCV)
- liver function tests (LFTs)
- JAK2 gene mutation screen
Investigations to consider
- oxygen saturation
- haemoglobin-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
non-pregnant adults: low/intermediate risk for thrombosis without marked thrombocytosis
non-pregnant adults: high risk for thrombosis without marked thrombocytosis
non-pregnant adults: with marked thrombocytosis
non-pregnant adults: intolerant of other therapies (including hydroxycarbamide, ruxolitinib, and interferon), or of very advanced age, or with short life expectancy
- Secondary polycythaemia owing to hypoxia
- Essential thrombocythaemia (ET)
- Chronic myelogenous leukaemia (CML)
- NCCN clinical practice guidelines in oncology: myeloproliferative neoplasms
- Diagnosis and management of polycythaemia vera
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