PT - JOURNAL ARTICLE AU - David Montani AU - Edmund M. Lau AU - Peter Dorfmüller AU - Barbara Girerd AU - Xavier Jaïs AU - Laurent Savale AU - Frederic Perros AU - Esther Nossent AU - Gilles Garcia AU - Florence Parent AU - Elie Fadel AU - Florent Soubrier AU - Olivier Sitbon AU - Gérald Simonneau AU - Marc Humbert TI - Pulmonary veno-occlusive disease AID - 10.1183/13993003.00026-2016 DP - 2016 May 01 TA - European Respiratory Journal PG - 1518--1534 VI - 47 IP - 5 4099 - http://erj.ersjournals.com/content/47/5/1518.short 4100 - http://erj.ersjournals.com/content/47/5/1518.full SO - Eur Respir J2016 May 01; 47 AB - 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.Recent advances such as discovery of the genetic basis of PVOD will pave way for future translational research http://ow.ly/YldhC