We are discussing a chap in his 40s with angina, previous transient ischaemic attack and polycythaemia. Because of his smoking history and relative alcohol excess we were wondering about secondary polycythaemia. He has had some fluids and his indices remain the same. The vascular events could be related to smoking but teamhaem were concerned about polycythaemia vera which is also associated with arterial and venous thrombosis.  with this in mind we asked about particular features:

• Night sweats
• Weight loss, lethargy
• Splenomegaly
• Aquagenic pruritis
• Thrombosis (venous/arterial) and bleeding
• Headache/visual disturbance
• Dizziness
• Erythromelalgia

There is no family history to point towards a genetic cause of polycythaemia and no recreational erythropoietin use.  Despite the indicators pointing towards secondary polycythaemia we felt it was important to look for a mutation in the JAK2 (Janus Kinase2) gene. The V617F (change of valine to phenylalanine at the 617 position) is found in about 95% of patients with polycythaemia and mutations in exon 12 are found in another 2-4%.

Results have been expedited and he is found to harbour the JAK2 V617F mutation. Epo levels are low.  Post one venesection his Hb is 19.6g/L and HCT 0.58.

Questions:

• Does this mean he has polycythaemia vera? Which guidelines are you using?
• Are you going to do a bone marrow?
• Do you tell him he has a malignancy?
• He has had one venesection – what do you do next?

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