肺静脉闭塞病及肺毛细血管瘤病的临床和影像学特点

Clinical and imaging features of pulmonary veno-occlusive disease and pulmonary capillary hemangioma

目的 总结肺静脉闭塞病（pulmonary veno-occlusive disease,PVOD）和肺毛细血管瘤病（pulmonary capillary hemangioma,PCH）患者资料,探讨其临床及影像学特点.方法 回顾性分析同济大学附属上海市肺科医院2013至2017年诊断的8例PVOD和（或）PCH患者资料,其中男3例,女5例,年龄16～58岁,平均32.5岁.分析其临床表现、影像学表现、肺功能结果、基因学特点以及临床预后情况.结果 PVOD和PCH临床罕见,临床症状与特发性肺动脉高压易混淆,首发症状到确诊时间为2 ～ 120个月,平均38.3个月.肺部CT影像学主要表现为弥漫磨玻璃样、多发小结节影、小叶间隔线增厚及纵隔淋巴结肿大.患者存在不同程度的肺功能受累,以弥散功能减低为主,DLCO占预计值％为（39±9）％.患者的摄氧效率及运动耐量显著受损,峰值摄氧量、负荷量和氧脉搏占预计值％分别为（30±6）％、（36±12）％和（38±6）％,6 min步行距离为143 ～335 m,平均288.5 m.基线超声心动图显示重度肺动脉高压,肺动脉收缩压（76±22） mmHg（1 mmHg=0.133 kPa）.右心导管检查提示肺动脉压力及肺血管阻力显著增高,肺动脉平均压、肺血管阻力、肺小动脉压和心排量分别为（53.4±15.3）mmHg、（17.2±13.6） wood U、（6.9±2.9） mmHg和（3.5±1.1） L/min.5例患者进行EIF2AK4基因检测,其中3例明确存在临床意义的突变.结论 PVOD和PCH是两类罕见的肺血管疾病,根据临床表现、体格检查、肺功能、高分辨率CT影像学、心肺运动测试以及基因检测结果,可以诊断PVOD或PCH.

 Objective To improve the diagnosis and treatment of the pulmonary veno-occlusive disease （PVOD） and pulmonary capillary hemangioma （PCH）.Methods The clinical features,radiological findings,laboratory testing and treatment in 8 cases of PVOD/PCH which was diagnosed from 2013 to 2017 were described.Results PVOD/PCH was rare.The clinical symptoms were easily confused with IPAH,but the decrease of hypoxemia,clubbing,DLCO were more obvious,and the imaging features of HRCT were helpful for PVOD/PCH diagnosis.Combined with gene testing,it was helpful to diagnose PVOD/PCH and avoid the risk of surgical biopsy.Conclusion PVOD and PCH are rare type of pulmonary vascular diseases.According to clinical manifestations,physical examination,pulmonary function test results,HRCT imaging,CPET and gene detection results,PVOD or PCH can be diagnosed.