A man in his early 40s with no significant vascular risk factors was managed within a period of 6 months for recurrent vascular events: ischaemic stroke, transient ischaemic attack and isolated third nerve palsy. He was extensively investigated throughout the course of illness. The only potential aetiological factor identified was a positive janus kinase 2 (JAK 2) mutation after screening on account of mildly elevated platelet count noted during his most recent admission. Bone marrow aspiration confirmed essential thrombocythaemia. He was started on hydroxycarbamide and has remained relatively symptom free since then.
This case reiterates the known associations between thrombosis and JAK 2 mutation even without overt myeloproliferative neoplasms. It also highlights the need for specialists in stroke to consider screening for JAK 2 mutation in a young patient with cryptogenic stroke with or without polycythemia or thrombocytosis.
- haematology (incl blood transfusion)
- genetic screening / counselling
- screening (oncology)
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