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Pulmonary Hypertension in Orphan Lung Diseases

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Orphan Lung Diseases

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Abstract

Pulmonary hypertension (PH) may complicate the course of orphean lung diseases, and is classically associated with a decreased survival. Development of PH is usually related to chronic respiratory failure, but disproportionate pulmonary vascular involvement may occur in these diseases, particularly in the context of sarcoidosis, Langerhans’ cell histiocytosis, combined pulmonary fibrosis and emphysema syndrome, neurofibromatosis type 1 or lymphangioleiomyomatosis.

Pulmonary vascular involvement may also preferably affect venous compartment, leading to pulmonary veno-occlusive disease or pulmonary capillary hemangiomatosis (PVOD/PCH). Heritable forms of PVOD/PCH may occur and are associated with autosomic recessive transmission due to mutations in EIF2AK4 gene. PVOD/PCH is associated with a poor prognosis and efficacy of targeted-PAH therapy is unclear in this setting and recognition of PVOD require an early referral for lung transplantation.

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Authors and Affiliations

  1. Faculté de Médecine, Univ Paris-Sud, Kremlin-Bicêtre, F-94276, France

    David Montani MD, PhD, Barbara Girerd, Andrei Seferian, Laurent Godinas & Marc Humbert

  2. AP-HP, Service de Pneumologie et Réanimation Respiratoire, Centre National de Référence de l’Hypertension Pulmonaire Sévère, Hôpital Bicêtre, Le Kremlin Bicêtre, F-94270, France

    David Montani MD, PhD, Barbara Girerd, Andrei Seferian, Laurent Godinas & Marc Humbert

  3. INSERM U999, Hypertension Artérielle Pulmonaire: Physiopathologie et Innovation Thérapeutique, Centre Chirurgical Marie-Lannelongue, Le Plessis-Robinson, F-92350, France

    David Montani MD, PhD, Barbara Girerd, Andrei Seferian, Laurent Godinas & Marc Humbert

  4. Hôpitaux de Paris, Université Paris-Sud, 78 rue du général Leclerc, Le Kremlin Bicêtre, 94270, France

    David Montani MD, PhD

  5. Service de pneumologie, CHU Mont-Godinne UCL, Yvoir, Belgium

    Laurent Godinas

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  1. David Montani MD, PhD
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Correspondence to David Montani MD, PhD .

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Editors and Affiliations

  1. Rare Pulmonary Diseases, Hôpital Louis Pradel, Lyon, France

    Vincent Cottin

  2. Rare Pulmonary Diseases, Hôpital Louis Pradel, Lyon, France

    Jean-Francois Cordier

  3. Respiratory Medicine, University of Southampton, Southampton, United Kingdom

    Luca Richeldi

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Montani, D., Girerd, B., Seferian, A., Godinas, L., Humbert, M. (2015). Pulmonary Hypertension in Orphan Lung Diseases. In: Cottin, V., Cordier, JF., Richeldi, L. (eds) Orphan Lung Diseases. Springer, London. https://doi.org/10.1007/978-1-4471-2401-6_33

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  • DOI: https://doi.org/10.1007/978-1-4471-2401-6_33

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