肺静脉闭塞病/肺毛细血管瘤病的临床特征及诊治进展

Clinical Features,Diagnosis and Treatment of Pulmonary Veno-Occlusive Disease/Pulmonary Capillary Hemangiomatosis

肺毛细血管瘤病(pulmonary angiomatosis,PCH)是一种罕见的肺动脉高压(pulmonary arterial hypertension,PAH),其特征是肺泡间隔毛细血管增生。肺静脉闭塞病(pulmonary veno-occlusive disease,PVOD)组织学表现与PCH有明显的重叠,被认为是同一种疾病的不同表现,归属于PCH。基因检测可使PVOD/PCH更早得到确诊,但其病程进展快,治疗无循证医学证据,预后也更差,靶向治疗部分可能导致危及生命的肺水肿,肺移植仍然是符合条件的患者唯一首选治疗方法。进一步了解PVOD/PCH的分子机制和探索新的治疗靶点是今后的研究方向。

Pulmonary capillary hemangiomatosis(PCH)is a rare form of pulmonary arterial hypertension(PAH)that is characterized by pulmonary septal capillary hyperplasia.Pulmonary veno-occlusive disease(PVOD)has obvious histological overlap with PCH.It is considered to be a different manifestation of PCH and to belong to PCH.Genetic testing can lead to an earlier diagnosis of PVOD/PCH.However,the disease progresses rapidly,and the treatment is not evidence-based and is associated with a poor prognosis.Furthermore,the targeted therapy may partially result in life-threatening pulmonary edema.Therefore,lung transplantation remains the only treatment of choice for eligible patients.Further understanding of the molecular mechanism of PVOD/PCH and exploring new therapeutic targets will be the future research direction.