RT Journal Article
SR Electronic
T1 Pulmonary veno-occlusive disease
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP 1518
OP 1534
DO 10.1183/13993003.00026-2016
VO 47
IS 5
A1 David Montani
A1 Edmund M. Lau
A1 Peter Dorfmüller
A1 Barbara Girerd
A1 Xavier Jaïs
A1 Laurent Savale
A1 Frederic Perros
A1 Esther Nossent
A1 Gilles Garcia
A1 Florence Parent
A1 Elie Fadel
A1 Florent Soubrier
A1 Olivier Sitbon
A1 Gérald Simonneau
A1 Marc Humbert
YR 2016
UL http://erj.ersjournals.com/content/47/5/1518.abstract
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