Pulmonary veno-occlusive disease

David Montani, Edmund M Lau, Peter Dorfmüller, Barbara Girerd, Xavier Jaïs, Laurent Savale, Frederic Perros, Esther Nossent, Gilles Garcia, Florence Parent, Elie Fadel, Florent Soubrier, Olivier Sitbon, Gérald Simonneau, Marc Humbert

Research output: Contribution to journalReview articleAcademicpeer-review

184 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1518-34
Number of pages17
JournalEuropean respiratory journal
Issue number5
Publication statusPublished - May 2016


  • Animals
  • Disease Models, Animal
  • Family Health
  • Female
  • Humans
  • Hypertension, Pulmonary/complications
  • 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
  • Risk Factors
  • Tomography, X-Ray Computed

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