Clinical manifestation of stroke patients with primary thrombocythemia according to JAK2 mutation

초록

Background and Aims: primary thrombocythemia is a rare disease and usually presents with headache, bleeding, and splenomegaly. JAK2 mutation is one of common gene mutation, which caused primary thrombocythemia. However, the clinical manifestation of ischemic stroke patients with essential thrombocytosis, especially related to JAK2 mutation,remains uncertain. Method: We selected the patients with primary thrombocythemia from our stroke registry from 2005 to 2016 and analyzed the demographic and laboratory findings according to JAK2 mutation. Results: Among 9358 patients in stroke registry, only 44 (0.4%) patients had the primary thrombocythemia (mean age 66.110.2, male 22). Mean platelet count was 672258 *103/lL and 20(45%) had the JAK2 mutation. Twenty five patients (56%) had the cryptogenic stroke etiology and cardioembolism and transient ischemic attack were also frequently observed (18% and 14%, respectively). Three (6.8%) patients died within 3 months of stroke onset. There was no difference in the demographic profile and the frequency of hypertension, diabetes mellitus, dyslipidemia and current smoking between the patients with JAK2 mutation and those without. The platelet counts were not different between two groups, either. The patients without JAK2 mutation had more frequent accompanying cancer than those with JAK2 mutation (42% vs.11%, P¼0.03). Conclusion: Our data suggest that the primary thrombocythemia is rare disorder in stroke population and that this platelet disorders is most associated with the cryptogenic stroke among stroke etiology. If a stroke patient with primary thrombocythemia had no JAK2 mutation, the possibility of hidden malignancy should be considered.