title: Pulmonary veno-occlusive disease.
abstract: 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.
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: David
authors.initials: D
authors.lastname: Montani
authors.affiliation: AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France University of Sydney, Sydney Medical School, Dept of Respiratory Medicine, Royal Prince Alfred Hospital, Camperdown, Australia.
authors.forename: Edmund M
authors.initials: EM
authors.lastname: Lau
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Service d'anatomo-pathologie, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Peter
authors.initials: P
authors.lastname: Dorfmüller
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Barbara
authors.initials: B
authors.lastname: Girerd
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Xavier
authors.initials: X
authors.lastname: Jaïs
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Savale
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Frederic
authors.initials: F
authors.lastname: Perros
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Service d'anatomo-pathologie, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Esther
authors.initials: E
authors.lastname: Nossent
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Gilles
authors.initials: G
authors.lastname: Garcia
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Parent
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France Service de Chirurgie Thoracique, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Elie
authors.initials: E
authors.lastname: Fadel
authors.affiliation: Univ Pierre et Marie Curie-Paris 6, Laboratoire d'Oncogénétique et Angiogénétique Moléculaire, UMRS 956 INSERM, Groupe Hospitalier Pitié-Salpétrière, Paris, France.
authors.forename: Florent
authors.initials: F
authors.lastname: Soubrier
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Sitbon
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France.
authors.forename: Gérald
authors.initials: G
authors.lastname: Simonneau
authors.affiliation: Univ Paris-Sud, Faculté de Médecine, Université Paris-Saclay, Le Kremlin Bicêtre, France AP-HP, Service de Pneumologie, Hôpital Bicêtre, Le Kremlin Bicêtre, France Inserm UMR_S 999, Centre Chirurgical Marie Lannelongue, Le Plessis Robinson, France marc.humbert@aphp.fr.
authors.forename: Marc
authors.identifier: 0000-0003-0703-2892
authors.initials: M
authors.lastname: Humbert
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005192:Family Health; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications* / Q000235:genetics; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007249:Inflammation; D016040:Lung Transplantation / Q000009:adverse effects*; D008297:Male; D009154:Mutation; D010100:Oxygen / Q000627:therapeutic use; D010375:Pedigree; D011379:Prognosis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011651:Pulmonary Artery / Q000473:pathology*; D011654:Pulmonary Edema / Q000473:pathology; D011668:Pulmonary Veno-Occlusive Disease / Q000175:diagnosis* / Q000235:genetics*; D012307:Risk Factors; D014057:Tomography, X-Ray Computed
chemical_list: D007166:Immunosuppressive Agents; C529271:EIF2AK4 protein, human; D017346:Protein Serine-Threonine Kinases; D010100:Oxygen