Department of Graduate School, Hebei Medical University, Shijiazhuang, Hebei, China.
Department of Neurology, Hebei General Hospital, Shijiazhuang, Hebei, China.
Medicine (Baltimore). 2024 Feb 16;103(7):e36953. doi: 10.1097/MD.0000000000036953.
As the second leading cause of death and disability worldwide, stroke is mainly caused by atherosclerosis and cardiac embolism, particularly in older individuals. Nevertheless, in young and otherwise healthy individuals, the causes of stroke can be more diverse and may include conditions such as patent foramen ovale, vasculitis, coagulopathies, genetic factors, or other undetermined causes. Although these other causes of stroke account for a relatively small proportion compared to ischemic stroke, they are becoming increasingly common in clinical practice and deserve attention. Here, we present a rare female patient with polycythemia vera (PV) who was admitted to the hospital as a stroke patient without any previous medical history.
A 40-year-old young woman felt sudden dizziness and slow response. After 4 days of being admitted, she developed blurry vision on the right.
Cranial magnetic resonance imaging revealed aberrant signals in the left temporal and parietal lobe, as well as multiple small focal signal abnormalities were observed in the left frontal lobe. Magnetic resonance angiography revealed partial stenosis of the left internal carotid artery. The patient's blood routine examination revealed a significant elevation in complete blood counts, particularly the increase in red blood cells, as well as prolonged clotting time. An abdominal ultrasound and abdomen computed tomography showed splenomegaly. The outcome of the genetic testing was positive for the Janus kinase JAK2 exon V617F mutation (JAK2/V617F). The patient was diagnosed with PV-related stroke.
The patient was treated with phlebotomy, cytoreductive therapy, and low-dose aspirin antiplatelet therapy and was regularly followed up in hematology and neurology clinics after discharge.
The patient's red blood cell, leukocyte, and thrombocyte counts had fully normalized, with her hemoglobin level measuring at 146 g/L and hematocrit value at 43%. Furthermore, there had been a significant improvement in neurological symptoms.
PV, a rare hematological disorder, can present with ischemic stroke as the initial performance, and the diagnosis mainly relies on routine blood tests, bone marrow biopsies, and genetic test. Therefore, clinicians should pay attention to PV, a low-prevalence disease, when encountering stroke in youth.
中风是全球第二大致死和致残原因,主要由动脉粥样硬化和心源性栓塞引起,尤其在老年人中较为常见。然而,在年轻且健康的个体中,中风的原因可能更加多样化,包括卵圆孔未闭、血管炎、凝血异常、遗传因素或其他未确定的原因等。尽管这些中风的其他原因与缺血性中风相比占比较小,但在临床实践中越来越常见,值得关注。在这里,我们报告了一例罕见的女性真性红细胞增多症(PV)患者,她因中风入院,此前无任何既往病史。
一位 40 岁的年轻女性突然感到头晕和反应迟钝。入院 4 天后,她出现右侧视力模糊。
头颅磁共振成像显示左侧颞顶叶异常信号,左额叶可见多个小灶性信号异常。磁共振血管造影显示左侧颈内动脉部分狭窄。患者血常规检查显示全血细胞计数显著升高,尤其是红细胞增加,凝血时间延长。腹部超声和腹部 CT 显示脾肿大。基因检测结果阳性,存在 JAK2 外显子 V617F 突变(JAK2/V617F)。该患者被诊断为与 PV 相关的中风。
患者接受了放血治疗、细胞减少治疗和小剂量阿司匹林抗血小板治疗,并在出院后定期在血液科和神经科门诊进行随访。
患者的红细胞、白细胞和血小板计数已完全正常,血红蛋白水平为 146g/L,血细胞比容为 43%。此外,神经症状也有显著改善。
PV 是一种罕见的血液疾病,可表现为缺血性中风的首发表现,诊断主要依赖于常规血液检查、骨髓活检和基因检测。因此,当遇到年轻人中风时,临床医生应注意这种发病率较低的疾病——PV。