Essential Thrombocytopenia/JAK Mutation Causing Thrombosis: A Case Report and Review of Literature

Classic Myeloproliferative Neoplasms (MPNs) include Polycythemia Vera (PV), Essential Thrombocythemia (ET), Chronic Myeloid Leukemia (CML) and Primary Myelofibrosis (PMF). Among these Chronic Myeloproliferative Disorders (CMPDs), ET can be diagnosed by the presence of a chronic nonreactive thrombocythemic state and by the exclusion of the other CMPDs. Similar to other CMPDs; ET can lead to vascular events through quantitative and qualitative changes of the affected hematologic cell. The disease can present with any subtype of stroke including Cerebral Vein Thrombosis (CVT), which although rarely, may complicate, proceed, and occur at the moment of this CMPD. We present the case of a 65-year-old female affected by CVT complicated by ischemic stroke with haemorrhagic transformation. After detection of JAK2 V617F mutation, the patient was diagnosed with Essential Trombocythemia (ET). We discuss the relationship between MPNs, focusing on ET, and cerebrovascular disease, the possible mechanisms linking the two conditions, and the different clinical features regarding stroke subtypes (both of arterial and venous origin). We also describe the clinical relevance of JAK2 V617F mutation and its role in the pathogenesis of thrombosis, ischemic stroke and CVT.