The estimated prevalence is around 2-3 per 10,000 people. It typically presents in older individuals. There may be a slightly greater male predilection.
Polycthaemia vera has a varied presentation, with the most serious features being those of venous and arterial thrombosis, as well as transformation into acute myeloid leukemia.
- unbearable pruritus, classically after taking a warm bath/shower
- venous thrombosis
- arterial thrombosis
- conjunctival injection
- facial plethora
JAK2 mutations (particularly the V617F mutation) can be found in more than 95% of people with polycythemia vera.
Major WHO criteria are as follows:
hemoglobin >16.5 g/dL in men and >16 g/dL in women, or hematocrit >49% in men and >48% in women, or red cell mass >25% above mean normal predicted value
bone marrow biopsy showing hypercellularity for age with trilineage growth (panmyelosis) including prominent erythroid, granulocytic, and megakaryocytic proliferation with pleomorphic, mature megakaryocytes (differences in size)
presence of JAK2V617F or JAK2 exon 12 mutation
The minor WHO criterion is:
serum erythropoietin level below the reference range for normal
Radiographic manifestations are varied and non-specific and can affect a number of systems, including:
- organ infarcts e.g. splenic infarcts
- features of extramedullary hematopoiesis
- increased radiographic attenuation of cerebral arteries, veins and dural sinuses (may mimic cerebral vein thrombosis)
Treatment and prognosis
The overall prognosis can be variable with a wide natural course among individuals. Treatment options include venesection, aspirin, or cytoreductive therapy. If refractory, advanced therapy (e.g. ruxolitinib, anagrelide, etc.) can be used. Oral radiophosphorus (32-P) is now avoided in 'benign' myeloproliferative diseases due to the risk of inducing acute myeloid leukemia 5.
Other causes of polycythemia (i.e. secondary polycythemia), such as chronic obstructive pulmonary disease, may have a similar biochemical presentation but will generally have a very different clinical presentation.
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- 2. Delamore IW, Macdonald AF, Samuel E. The radiological investigation of polycythaemia with particular emphasis on the renal tract. The British journal of radiology. 35: 671-8. doi:10.1259/0007-1285-35-418-671 - Pubmed
- 3. Healy JF, Nichols C. Polycythemia mimicking venous sinus thrombosis. AJNR. American journal of neuroradiology. 23 (8): 1402-3. Pubmed
- 4. Pitman RG, Steiner RE, Szur L. The radiological appearances of the chest in polycythaemia vera. Clinical radiology. 12: 276-85. Pubmed
- 5. Brandt L, Anderson H. Survival and risk of leukaemia in polycythaemia vera and essential thrombocythaemia treated with oral radiophosphorus: are safer drugs available?. (1995) European journal of haematology. 54 (1): 21-6. Pubmed