Diagnosing rare diseases can be challenging, and treating these conditions is complex because of their often quite specific needs and treatment options. To address this, the European Respiratory Society (ERS) has published Rare Diseases of the Respiratory System. Structured into thematic sections, the book covers: the identification of rare diseases of the respiratory system and their differential diagnosis; rare diseases of the lung interstitium; rare diseases of the airways or alveoli; and rare pulmonary vascular diseases. The Guest Editors and authors belong to and/or support the vision and mission of the European Reference Network for Rare Diseases of the Respiratory System (ERN-LUNG), which offers expert support to both patients and professionals. As such, this comprehensive book will prove an excellent resource for healthcare professionals, researchers and students interested in rare diseases of the respiratory system.
How to identify rare diseases of the respiratory system; Differential
diagnosis of reciprocal mimics of neoplastic and non-neoplastic pulmonary
disorders: multidisciplinary approaches; Interstitial lung diseases: an
overview; Rare interstitial lung diseases of environmental origin;
Amyloidosis and the lungs and airways; Diffuse cystic lung diseases including
lymphangioleiomyomatosis; Bronchiolitis; Pulmonary alveolar proteinosis;
Primary ciliary dyskinesia; Cystic fibrosis and other ion channel-related
diseases; Bronchiectasis: from orphan disease to precision medicine;
Alpha-1-antitrypsin deficiency and other rare forms of emphysema; Pulmonary
arterial hypertension; Chronic thromboembolic pulmonary hypertension;
Pulmonary hypertension in orphan lung diseases; Hepatopulonary syndrome: a
live-induced oxygenation defect; Systemic inflammatory diseases with lung
involvement; ANCA-associated vasculitis and other pulmonary haemorrhage;
Eosinophilic granulomatosis with polyangiitis; Idiopathic eosinophilic
pneumonias; Sarcoidosis; Granulomatous and lymphocytic interstitial lung
disease in common variable immunodeficiency; Thoracic endometriosis and
catamenial pneumothorax; Chronic lung allograft dysfunction after lung
transplantation; Malformations and idiopathic disorders of the trachea; Rare
diseases of respiratory drive; Plural mesothelioma
Thomas O.F. Wagner is a professor of internal medicine, and has been Head of the Frankfurt University Hospital Reference Centre for Rare Diseases (Frankfurt, Germany) since 2010. Marc Humbert is Dean and Professor of Respiratory Medicine at the Université Paris-Saclay Faculty of Medicine in Le Kremlin-Bicźtre, France. He is the Director of the Respiratory and Intensive Care Medicine Department, French PH Reference Centre, Assistance Publique Hōpitaux de Paris (Le Kremlin- Bicźtre). Marlies Wijsenbeek is a pulmonary physician and Professor of Interstitial Lung Diseases at the Erasmus University Medical Centre in Rotterdam, a national expert centre for interstitial lung disease in the Netherlands. Michael Kreuter is Director of the Lung Center Mainz (Mainz, Germany) and Professor of Pneumology at the University of Mainz. Helge Hebestreit is Professor and Vice Director of Paediatrics, Director of the Centre for Rare Diseases, and Head of Paediatric Pulmonolgy and of the Cystic Fibrosis Centre at the University Hospital in Würzburg (Germany).
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