Rare Diseases of the Respiratory System

Description

Preface Guest Editors Thomas O.F. Wagner Marc Humbert Marlies Wijsenbeek Michael Kreuter Helge Hebestreit Introduction References How to identify rare diseases of the respiratory system Abstract Introduction Clinical clues Measures of respiratory function at rest and during exercise Laboratory values Imaging BAL Histology Next-generation sequencing Artificial intelligence and clinical decision support systems Case conferences Conclusion References Differential diagnosis of reciprocal mimics of neoplastic and non-neoplastic pulmonary disorders: multidisciplinary approaches Abstract Introduction Cancers mimicking orphan lung diseases at imaging Cancer mimics of organising pneumonia Lung adenocarcinoma/bronchioloalveolar carcinoma Primary pulmonary lymphoma Cancer mimics of ILDs Lymphangitic carcinomatosis Lymphomatoid granulomatosis EHE and angiosarcoma Cancer mimics of multiple cystic/cavitary lung disorders Cancer mimics of PH Lung “pseudo”-myofibroblastic tumours Borderline neoplastic/non-neoplastic disorders Respiratory tract papillomatosis Amyloid and nonamyloid immunoglobulin deposition disorders Pulmonary Langerhans cell histiocytosis Lessons learned: rare tumours versus orphan lung diseases Conclusion References Interstitial lung diseases: an overview Abstract Introduction Classification and epidemiology of ILDs Pathogenesis of ILDs Genetics Inflammation Fibrosis Diagnosis of ILDs Disease course of ILDs, definition of PPF and prognosis Management Pharmacological management Supportive and non-pharmacological management Lung transplantation The future of ILDs and concluding remarks References Rare interstitial lung diseases of environmental origin Abstract Introduction Hypersensitivity pneumonitis Definition Epidemiology Pathogenesis Diagnosis and treatment Prognosis Pneumoconiosis Definition Epidemiology Pathogenesis Diagnosis and treatment Prognosis and prevention Specific environments and exposures associated with rare ILDs Farming Food manufacturing Textile manufacturing Nanoparticles Indium lung Effects of environmental exposure on other ILDs References Amyloidosis and the lungs and airways Abstract Introduction Diagnosis of amyloidosis Systemic AA amyloidosis Systemic AL amyloidosis Localised amyloidosis Laryngeal amyloidosis Tracheobronchial amyloidosis Parenchymal pulmonary amyloidosis Amyloidosis in Sjögren syndrome Amyloid lymphadenopathy Pleural amyloidosis Conclusion References Diffuse cystic lung diseases including lymphangioleiomyomatosis Abstract Introduction Radiological features Clinical management LAM Pathogenesis Clinical manifestation and diagnosis Treatment: present and future PLCH Pathogenesis Clinical manifestation and diagnosis Treatment BHD Pathogenesis Clinical manifestation and diagnosis Conclusion References Bronchiolitis Abstract Introduction Aetiology and histopathology Cellular bronchiolitis Acute bronchiolitis Chronic bronchiolitis Follicular bronchiolitis Lymphocytic bronchiolitis Eosinophilic bronchiolitis Granulomatous bronchiolitis Chronic aspiration bronchiolitis Diffuse panbronchiolitis Proliferative bronchiolitis CB Clinical aspects Imaging Diagnostic approach Specific forms of bronchiolitis Exposure-related bronchiolitis Mineral dust-associated diseases Diffuse bronchiolar disease as a result of chronic occult aspiration Infectious bronchiolitis Postinfectious bronchiolitis Bronchiolar complications of CTDs PAMS Post-transplant bronchiolitis obliterans syndrome Drugs associated with bronchiolitis IBD DPB EB Respiratory bronchiolitis Rare genetic disorders Idiopathic OB References Pulmonary alveolar proteinosis Abstract Introduction Pathophysiology Epidemiology Clinical features Clinical presentation Pulmonary infections Pulmonary fibrosis Diagnostic approach PFTs Radiology Bronchoscopy and biopsy Laboratory investigations Management WLL GM-CSF augmentation therapy Therapies targeting autoantibodies to GM-CSF Emerging therapies LTx Future directions and advances in PAP References Primary ciliary dyskinesia Abstract Introduction Classical clinical presentation of PCD Noncharacteristic phenotypes associated with PCD Motile cilia Genetics of PCD Diagnostic workflow Medical history Family history Individual medical history Imaging diagnostics in PCD care Further diagnostics of the airways Diagnostic methods Nasal nitrite oxide measurements High-speed videomicroscopy Electron microscopy IF analysis ALI culture Genetic analysis Predictive tools for PCD Treatment of PCD Lower airways Inhalation Antibiotic therapies Surgical interventions Upper airways Secretolysis Anti-inflammatory treatment Antibiotic therapies Tympanic drainage tubes and hearing aids Surgical intervention Fertility References Cystic fibrosis and other ion channel-related diseases Abstract Introduction Pathophysiology of CF lung disease Clinical presentation of CF lung disease Clinical and molecular diagnostics Breakthroughs in therapies targeting the underlying molecular defects in CF The potential role of ion channels in other muco-obstructive lung diseases The potential role of acquired CFTR dysfunction in other lung diseases Conclusions and outlook References Bronchiectasis: from orphan disease to precision medicine Abstract Introduction Epidemiology Pathophysiology Rare diseases that can cause bronchiectasis Primary ciliary dyskinesia CF Nontuberculous mycobacteria Tracheobronchomegaly Allergic bronchopulmonary aspergillosis Immunodeficiency Inflammatory bowel disease-associated bronchiectasis Investigation of bronchiectasis Management of bronchiectasis: treatable traits Treatable causes Phenotypes and endotypes Treatable traits-targeted management Idiopathic disease in the future: precision medicine Conclusion References α1-Antitrypsin deficiency and other rare forms of emphysema Abstract Introduction Molecular background of AATD Pathological mechanisms behind severe AATD-related lung emphysema Molecular diagnostics of AATD AATD-related lung diseases AATD-related liver disease Other disease manifestations of AATD Other rare diseases conferring increased risk of pulmonary emphysema Conclusion References Pulmonary arterial hypertension Abstract Introduction Clinical classification Pathology and pathobiology Diagnostic considerations Risk stratification Treatment Conclusion References Chronic thromboembolic pulmonary hypertension Abstract Introduction Definitions Epidemiology Pathophysiology Diagnosis Surgical treatment Medical treatment Interventional treatment Multimodal approach Conclusion References Pulmonary hypertension in orphan lung diseases Abstract Introduction PAH with features of venous/capillary (PVOD/PCH) involvement (group 1.5) PAH associated with small patella syndrome (group 1.2) PH in CPFE (group 3) PH associated with LAM (group 3) PH associated with sarcoidosis (group 5.2) PH associated with PLCH (group 5.2) PH associated with neurofibromatosis type 1 (group 5.2) Conclusion References Hepatopulmonary syndrome: a liver-induced oxygenation defect Abstract Introduction Histological features and pathophysiology of HPS Histological features Consequences for gas exchange Pathophysiological mechanisms Pulmonary vasodilation Bacterial translocation, endotoxaemia and intravascular monocyte/macrophage recruitment Increased pulmonary angiogenic function Prevalence of HPS and impact on survival Diagnostic approach and clinical investigations Liver disease Clinical characteristics Abnormal arterial oxygenation IPVDs Other investigations Management of HPS Medical treatment Liver transplantation Management after liver transplantation Conclusion References Systemic inflammatory diseases with lung involvement Abstract Introduction Connective tissue diseases Rheumatoid arthritis Systemic sclerosis Myositis Sjögren syndrome Systemic lupus erythematosus and mixed CTD Spondyloarthritis IBDs BehÇet disease Takayasu arteritis Progressive fibrotic phenotype Conclusion References ANCA-associated vasculitis and other pulmonary haemorrhage syndromes Abstract Evaluation of alveolar haemorrhage syndromes Clinical presentation Diagnostic evaluation Supportive management Empirical treatment Additional interventions ANCA-associated vasculitis Overview DAH Treatment General concepts Rituximab and cyclophosphamide Plasma exchange Glucocorticoids Complement inhibitors Maintenance Prophylaxis Other alveolar haemorrhage syndromes Anti-GBM disease Primary anti-phospholipid antibody syndrome Isolated pauci-immune pulmonary capillaritis Idiopathic pulmonary haemosiderosis Haematopoietic stem-cell transplantation Conclusion References Eosinophilic granulomatosis with polyangiitis Abstract Introduction Epidemiology Incidence and prevalence Triggering factors Clinical manifestations General symptoms Pulmonary symptoms Ear, nose and throat symptoms Neurological symptoms Gastrointestinal symptoms Cardiac symptoms Cutaneous symptoms Renal symptoms Ophthalmological symptoms Complementary investigations Diagnosis Diagnostic criteria Diagnostic criteria for relapse or flare Differential diagnoses Prognoses and outcomes Phenotypes according to ANCA status Treatment Therapeutic strategies Regimens to induce remission New drugs for treatment of AAV Rituximab Mepolizumab and other anti-IL-5 agents Maintenance therapy Mepolizumab Other treatment options Prevention of adverse events References Idiopathic eosinophilic pneumonias Abstract Introduction Polymorphonuclear eosinophils Idiopathic chronic eosinophilic pneumonia Clinical features Imaging Laboratory studies BAL Pathology Differential diagnosis PFTs Treatment Outcome and perspectives IAEP and smoking-related AEP Epidemiology Clinical features Imaging Laboratory studies BAL PFTs Lung biopsy Treatment and prognosis Other conditions References Sarcoidosis Abstract Introduction Lung sarcoidosis Principles of diagnosis Management and treatment Life-threatening manifestations of sarcoidosis Cardiac sarcoidosis Neurosarcoidosis Renal sarcoidosis New diagnostic and disease assessment tools Novel therapeutic agents in sarcoidosis Conclusion References Granulomatous and lymphocytic interstitial lung disease in common variable immunodeficiency Abstract Introduction Term and definition Diagnosis of GLILD Clinical features PFTs Radiology Histopathology of GLILD Prediction models Treatment of GLILD Conclusion References Thoracic endometriosis and catamenial pneumothorax Abstract Introduction Epidemiology of thoracic endometriosis and endometriosis-related pneumothorax Aetiopathogenesis of thoracic endometriosis and catamenial pneumothorax Catamenial pneumothorax and endometriosis-related pneumothorax Definition and classification Pathogenesis Clinical features Imaging and diagnostic procedures Treatment TES other than pneumothorax Catamenial haemothorax and endometriosis-related pleural effusion Endometriosis-related diaphragmatic hernia Endometriosis-related thoracic pain Conclusion References Chronic lung allograft dysfunction after lung transplantation Abstract History of chronic lung allograft dysfunction Current definition/diagnosis of CLAD Epidemiology and phenotypes of CLAD BOS RAS Mixed phenotype Undefined and unclassified phenotypes Inherent diagnostic problems in phenotyping Pathophysiology of CLAD Risk factors for CLAD development Biomarkers for CLAD Outcome of CLAD Treatment of CLAD Conclusion and future prospects References Malformations and idiopathic disorders of the trachea Abstract Introduction Embryogenesis Congenital disorders of the trachea Tracheomalacia Tracheal agenesis Laryngotracheo-oesophageal cleft TOF Vascular compression of the airways Congenital tracheo-bronchial stenosis due to complete tracheal rings Idiopathic disorders of the trachea Subglottic stenosis Tracheobronchopathia osteochondroplastica Tracheobronchomegaly (Mounier-Kuhn syndrome) Tracheopathies associated with infiltrative lung disease Conclusion References Rare diseases of respiratory drive Abstract Introduction Central control of breathing Genetic disorders Congenital central hypoventilation syndrome Presentation Diagnosis Genetics Management Complications/other system involvements Rett syndrome PWS Structural brain lesions Obesity hypoventilation syndrome Conclusion References Pleural mesothelioma Abstract Introduction Epidemiology and aetiology Pathogenesis, presentation, natural history and diagnosis Diagnostic and molecular pathology Prognosis and prognostic factors, biomarkers and (re-)staging Mesothelioma treatment Systemic treatment: first-line treatment Second-line treatment The role of surgical treatment in mesothelioma Radiotherapy Future prospects Prevention and screening Living with mesothelioma Conclusion References