摘要：

目的 总结以双侧视乳头水肿为主要表现的高原红细胞增多症的临床特点、治疗和预后。方法 回顾分析 2007 年 3 月至 2017 年 9 月共 7 例以双侧视乳头水肿为主要表现的高原红细胞增多症患者的临床表现、实验室检查、眼科检查、头部影像学检查、线粒体基因检测以及治疗与转归。结果 7 例患者中男性 6 例、女性 1 例，平均年龄为（44.43 ± 9.05）岁，高原居住时间为 7（4，13）个月，病程为（28.43 ± 10.05）d，发病初期血红蛋白均 > 210 g/L；均伴不同程度双侧视乳头水肿，视力为 1 只眼眼前 1 m 指数、13 只眼矫正视力 > 0.10，视野缺损类型为 2 只眼生理盲点扩大、4 只眼水平下方视野缺损、2 只眼中心暗点、6 只眼弥漫性视野缺损；7 例头部 MRI可见额顶叶或侧脑室旁点片状长 T₁ 、长 T₂ 异常信号影；7 只眼视神经 MRI 可见视神经信号增高，呈轻度强化；均予抗血小板和改善微循环治疗，随访 6 个月视力恢复良好。结论 以双侧视乳头水肿为主要表现的高原红细胞增多症易误诊为其他疾病。脱离高原环境、降低血红蛋白含量、辅以抗血小板和改善微循环治疗可以促进视力恢复。

关键词: 红细胞增多症, 视乳头水肿, 高海拔

Abstract:

Objective To investigate the clinical features, treatment and prognosis of high altitude polycythemia mainly manifested as bilateral papilledema. Methods Clinical data of 7 patients with high altitude polycythemia mainly manifested as bilateral papilledema in our hospital from March 2007 to September 2017 were retrospectively analyzed, including clinical manifestations, laboratory results, ophthalmologic examinations, head imaging features, mitochondrial gene detection, treatment and prognosis. Results There were 6 male patients and one female patient, with mean age (44.43 ± 9.05) years old, high altitude residence 7 (4, 13) months, and duration (28.43 ± 10.05) d. All patients were detected with high concentrations of hemoglobin (> 210 g/L), and different degrees of bilateral papilledema after onset. One eye had severe vision impairment [best corrected visual acuity (CVA) was finger counting], and the CVA of other 13 eyes were > 0.10. Visual field defects included enlargement of psychological blind spot (2 eyes), lower altitudinal visual field defect (4 eyes), central scotoma (2 eyes) and diffuse visual field defect (6 eyes). Brain MRI of 7 cases showed dot-like and patchy long T₁ and long T₂ signals in frontal lobe, parietal lobe and paraventricular region. Optic nerve MRI showed hyperintense signal and slight enhancement in 7 eyes and no abnormality in other 7 eyes. All patients were treated by antiplatelet therapy and microcirculation improvement. Best CVA of all patients were remarkably improved within follow up of 6 months. Conclusions High altitude polycythemia mainly manifested as bilateral papilledema was easily misdiagnosed as other diseases. Moving away from plateau, decreasing hemoglobin, anti-platelet therapy and microcirculation improvement may play an important role in the favorable prognosis.

Key words: Polycythemia, Papilledema, Altitude