Complex intracranial vascular complications caused by essential thrombocythemia: a critical case report

Abstract

Background Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by elevated and dysfunctional platelets. ET can result in systemic thrombotic and hemorrhagic complications, and it’s a rare cause of stroke. The coexistence of multiple vascular lesions has seldom been reported in patients with essential thrombocythemia. Case presentation A young woman presented with isolated and persistent vertigo and vomiting. The CT scan indicated a hyperdense lesion in the right cerebellar hemisphere. No signs of cerebral artery malformation were observed in the CT angiography (CTA). Besides, the blood tests indicated an increase in platelet and white blood cell counts. The patient then suddenly developed a transient unconsciousness with left horizontal nystagmus when staring to the right. The subsequent cranial magnetic resonance imaging (MRI) scans indicated a diffuse and acute infarction of the pons and hemorrhage in the bilateral cerebellums. Further digital subtraction angiography (DSA) revealed a progressive and critical intracranial vertebral arterial occlusion. The patient’s clinical condition stabilized after cytoreductive therapy with interferon-α (IFN-α), even though endovascular and antiplatelet treatments were restricted because of the simultaneous presence of intracerebral hemorrhage (ICH) and ischemic stroke. A JAK2 V617F mutation was later detected through genetic testing, further confirming the diagnosis of ET. The patient was treated with a continuous regimen of IFN-α, and an antiplatelet treatment (aspirin) was added after ICH. The 1-year follow-up indicated normal platelet levels and no additional stroke event. Conclusions This case demonstrates that ET can be a rare cause of the cerebrovascular disease (CVD), even though the coexistence of ischemic and hemorrhagic complications. Underlying hematological system diseases should be taken into account when abnormal hemogram and CVD are concurrent in a patient. An early multidisciplinary diagnosis and intervention could significantly improve patient’s prognosis.

A case of ischemic stroke with hemorrhagic transformation associated with essential thrombocythemia and JAK-2 V617F mutation

“…The pathogenesis of hemorrhagic stroke in ET has not yet been fully elucidated. Previous studies have suggested that hemorrhagic complications of ET are associated with a highly elevated platelet count (> 1,000,000/mL) and are often associated with acquired Von Willebrand syndrome [ 5 , 7 ]. However, in both cases, the platelet count was low.…”

“…Patient management includes antiplatelet and cytoreductive therapy, as in the current case. Only a few published case reports of intracerebral hemorrhage in patients with ET and JAK2 V617F mutations exist [4][5][6][7].…”