Pulmonary veno-occlusive disease
Pulmonary veno-occlusive disease
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DOI：
10.1183/13993003.00026-2016
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发表时间：
2016-05-01
影响因子：
24.3
通讯作者：
Humbert, Marc
中科院分区：
文献类型：
--
作者：
Montani, David;Lau, Edmund M.;Humbert, Marc
肺静脉闭塞性疾病（PVOD）是一种罕见的肺动脉高压（PH），其特征是肺小静脉的优先重塑。在目前的PH分类中，PVOD和肺毛细血管血管瘤病（PCH）被认为是一个共同的实体，代表了同一疾病的不同表现。最近发现EIF 2AK 4基因的双等位基因突变是遗传性PVOD/PCH的原因，这是我们理解PVOD分子发病机制的一个重要里程碑。尽管PVOD和肺动脉高压（PAH）具有相似的临床表现，具有重度毛细血管前PH的特征，但区分这两种疾病非常重要，因为PVOD的预后较差，并且在开始PAH治疗后可能发生危及生命的肺水肿。基于无创性检查的PVOD的准确诊断是可能的，利用氧气参数，一氧化碳的低弥散能力和胸部高分辨率计算机断层扫描的特征性体征。目前尚无针对PVOD的循证医学治疗，肺移植仍然是符合条件的患者的首选确定性治疗。
Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension (PH) characterised by preferential remodelling of the pulmonary venules. In the current PH classification, PVOD and pulmonary capillary haemangiomatosis (PCH) are considered to be a common entity and represent varied expressions of the same disease. The recent discovery of biallelic mutations in the EIF2AK4 gene as the cause of heritable PVOD/PCH represents a major milestone in our understanding of the molecular pathogenesis of PVOD. Although PVOD and pulmonary arterial hypertension (PAH) share a similar clinical presentation, with features of severe precapillary PH, it is important to differentiate these two conditions as PVOD carries a worse prognosis and life-threatening pulmonary oedema may occur following the initiation of PAH therapy. An accurate diagnosis of PVOD based on noninvasive investigations is possible utilising oxygen parameters, low diffusing capacity for carbon monoxide and characteristic signs on high-resolution computed tomography of the chest. No evidence-based medical therapy exists for PVOD at present and lung transplantation remains the preferred definitive therapy for eligible patients.