Pulmonary veno-occlusive disease

作者：David Montani, Edmund Lau, Peter Dorfmüller, Barbara Girerd, Xavier Jaïs, Laurent Savale, Frédéric Perros, Esther J. Nossent, Gilles Garcia, Florence Parent, Élie Fadel, Florent Soubrier, Olivier Sitbon, Gérald Simonneau, Marc Humbert · 发表于：European Respiratory Journal · 年份：2016 · DOI：10.1183/13993003.00026-2016 · 被引用次数：522 · 研究领域：Pulmonary Hypertension Research and Treatments、Vascular Anomalies and Treatments、Venous Thromboembolism Diagnosis and Management

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.