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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Contributors PB: managed the patient, conceived the idea of the case report, was involved in planning, literature search and referencing for the case report, wrote the initial draft of the case report, took consent from the patient, revised the case report and approved the final draft of the case report; is the guarantor. SD: managed the patient, contributed to referencing and literature search, revised the case report and approved the final draft of the case report. NA managed the patient, was involved in the conception of the idea, revised the case report and approved the final draft.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
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