Pulmonary veno-occlusive disease

• Published in: The European respiratory journal Vol. 47; no. 5; pp. 1518 - 1534
• Main Authors: Montani, David, Lau, Edmund M., Dorfmüller, Peter, Girerd, Barbara, Jaïs, Xavier, Savale, Laurent, Perros, Frederic, Nossent, Esther, Garcia, Gilles, Parent, Florence, Fadel, Elie, Soubrier, Florent, Sitbon, Olivier, Simonneau, Gérald, Humbert, Marc
• Format: Journal Article
• Language: English
• Published: England 01.05.2016
• Subjects: Animals; Disease Models, Animal; Family Health; Female; Humans; Hypertension, Pulmonary - complications; Hypertension, Pulmonary - genetics; Immunosuppressive Agents - therapeutic use; Inflammation; Lung Transplantation - adverse effects; Male; Mutation; Oxygen - therapeutic use; Pedigree; Prognosis; Protein-Serine-Threonine Kinases - genetics; Pulmonary Artery - pathology; Pulmonary Edema - pathology; Pulmonary Veno-Occlusive Disease - diagnosis; Pulmonary Veno-Occlusive Disease - genetics; Risk Factors; Tomography, X-Ray Computed
• ISSN: 0903-1936; 1399-3003; 1399-3003
• DOI: 10.1183/13993003.00026-2016

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.