BOOK
Rare and Orphan Lung Diseases, An Issue of Clinics in Chest Medicine, E-Book
Robert Kotloff | Francis X. McCormack
(2016)
Additional Information
Book Details
Abstract
Drs. Robert Kotloff and Francis McCormack have assembled an expert team of authors on the topic of Rare and Orphan Lung Diseases. Articles include: Lymphangioleiomyomatosis, Pulmonary Lymphangiomatosis, Langerhans Cell Histiocytosis and other Histiocytic Diseases of the Lung, Pulmonary Alveolar Proteinosis, Pulmonary Alveolar Microlithiasis, Primary Ciliary Dyskinesia, Birt-Hogg-Dube Syndrome, Hermansky-Pudlak Syndrome, Hereditary Hemorrhagic Telangiectasia, Non-CF Bronchiectasis, Eosinophilic Lung Diseases, Benign Metastasizing Leiomyomata, and more!
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Rare and Orphan Lung \rDiseases | i | ||
| Copyright\r | ii | ||
| Contributors | iii | ||
| EDITORS | iii | ||
| AUTHORS | iii | ||
| Contents | vii | ||
| Preface: Rare Lung Diseases: Occasionally the “Horse” Has Stripes\r | vii | ||
| Lymphangioleiomyomatosis\r | vii | ||
| Plastic Bronchitis\r | vii | ||
| Nonmalignant Adult Thoracic Lymphatic Disorders\r | vii | ||
| Langerhans Cell Histiocytosis and Other Histiocytic Diseases of the Lung\r | vii | ||
| Pulmonary Alveolar Proteinosis Syndrome\r | viii | ||
| Pulmonary Alveolar Microlithiasis\r | viii | ||
| Primary Ciliary Dyskinesia\r | viii | ||
| Lymphocytic Interstitial Pneumonia\r | viii | ||
| Birt-Hogg-Dubé Syndrome\r | ix | ||
| α1-Antitrypsin Deficiency\r | ix | ||
| Hermansky-Pudlak Syndrome\r | ix | ||
| Hereditary Hemorrhagic Telangiectasia\r | ix | ||
| Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease\r | x | ||
| Eosinophilic Lung Diseases\r | x | ||
| Hyper-IgE Syndromes and the Lung\r | x | ||
| Immunoglobulin G4-Related Disease and the Lung\r | x | ||
| Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia and Neuroendocrine Hyperplasia of Infancy\r | xi | ||
| Benign Metastasizing Leiomyoma\r | xi | ||
| CME Accreditation Page | xii | ||
| PROGRAM OBJECTIVE | xii | ||
| TARGET AUDIENCE | xii | ||
| LEARNING OBJECTIVES | xii | ||
| ACCREDITATION | xii | ||
| DISCLOSURE OF CONFLICTS OF INTEREST | xii | ||
| UNAPPROVED/OFF-LABEL USE DISCLOSURE | xii | ||
| TO ENROLL | xiii | ||
| METHOD OF PARTICIPATION | xiii | ||
| CME INQUIRIES/SPECIAL NEEDS | xiii | ||
| CLINICS IN CHEST MEDICINE\r | xiv | ||
| FORTHCOMING ISSUES | xiv | ||
| December 2016 | xiv | ||
| March 2017 | xiv | ||
| June 2017 | xiv | ||
| RECENT ISSUES | xiv | ||
| June 2016 | xiv | ||
| March 2016 | xiv | ||
| December 2015 | xiv | ||
| Preface:\rRare Lung Diseases: Occasionally the “Horse” Has Stripes | xv | ||
| Lymphangioleiomyomatosis | 389 | ||
| Key points | 389 | ||
| INTRODUCTION | 389 | ||
| PATHOLOGIC EVALUATION | 389 | ||
| Histology | 389 | ||
| Lymphangioleiomyomatosis Cell Biology | 390 | ||
| Circulating Cells: Lymphangioleiomyomatosis as a Metastatic Neoplasm | 390 | ||
| Tuberous Sclerosis Complex Genes and Mammalian Target of Rapamycin Activation | 390 | ||
| PRESENTATION AND DIAGNOSTIC STRATEGY | 390 | ||
| Presentation | 390 | ||
| Diagnostic Strategy | 392 | ||
| MANAGEMENT AND DISEASE COURSE | 393 | ||
| Initial Assessment and Prognosis | 393 | ||
| General Principles of Management | 394 | ||
| Pregnancy and Contraception | 395 | ||
| Tuberous Sclerosis–Related Clinical Problems | 395 | ||
| Bronchodilators | 395 | ||
| Mammalian Target of Rapamycin Activation Inhibitors | 397 | ||
| Pneumothorax | 398 | ||
| Chylous Complications | 398 | ||
| Angiomyolipomas | 398 | ||
| Meningioma | 399 | ||
| Advanced Disease | 399 | ||
| SUMMARY | 399 | ||
| REFERENCES | 399 | ||
| Plastic Bronchitis | 405 | ||
| Key points | 405 | ||
| INTRODUCTION | 405 | ||
| PATIENT EVALUATION OVERVIEW | 405 | ||
| DISEASE ASSOCIATIONS | 406 | ||
| PHARMACOLOGIC TREATMENT OPTIONS | 407 | ||
| NONPHARMACOLOGIC AND SURGICAL TREATMENT OPTIONS | 407 | ||
| EVALUATION OF OUTCOMES AND LONG-TERM RECOMMENDATIONS | 408 | ||
| THE FUTURE | 408 | ||
| REFERENCES | 408 | ||
| Nonmalignant Adult Thoracic Lymphatic Disorders | 409 | ||
| Key points | 409 | ||
| INTRODUCTION | 409 | ||
| THORACIC LYMPHANGIOMAS (MICROCYSTIC AND MACROCYSTIC LYMPHATIC MALFORMATIONS) | 411 | ||
| LYMPHANGIOLEIOMYOMATOSIS | 412 | ||
| PRIMARY PULMONARY LYMPHATIC ANOMALY | 413 | ||
| GENERALIZED LYMPHATIC ANOMALY WITH PULMONARY INVOLVEMENT | 413 | ||
| GORHAM-STOUT DISEASE | 414 | ||
| KAPOSIFORM LYMPHANGIOMATOSIS | 414 | ||
| CHYLOPTYSIS AND PLASTIC BRONCHITIS | 415 | ||
| PULMONARY LYMPHANGIECTASIA | 416 | ||
| THE YELLOW NAIL SYNDROME | 416 | ||
| SUMMARY AND FUTURE DIRECTIONS | 417 | ||
| REFERENCES | 417 | ||
| Langerhans Cell Histiocytosis and Other Histiocytic Diseases of the Lung | 421 | ||
| Key points | 421 | ||
| INTRODUCTION | 421 | ||
| EPIDEMIOLOGY AND DEMOGRAPHICS | 422 | ||
| PATHOLOGY AND PATHOPHYSIOLOGY | 422 | ||
| CLINICAL FEATURES AND DIAGNOSTIC EVALUATION | 424 | ||
| IMAGING AND PULMONARY FUNCTION TESTING | 424 | ||
| APPROACH TO THE DIAGNOSIS OF PULMONARY LANGERHANS CELL HISTIOCYTOSIS | 424 | ||
| MANAGEMENT | 425 | ||
| ERDHEIM-CHESTER DISEASE | 426 | ||
| ROSAI-DORMAN DISEASE (SINUS HISTIOCYTOSIS WITH MASSIVE LYMPHADENOPATHY) | 427 | ||
| SUMMARY | 427 | ||
| REFERENCES | 427 | ||
| Pulmonary Alveolar Proteinosis Syndrome | 431 | ||
| Key points | 431 | ||
| INTRODUCTION | 431 | ||
| PATHOGENESIS | 432 | ||
| CLINICAL PRESENTATION | 434 | ||
| DIAGNOSIS | 434 | ||
| Radiographic Findings | 434 | ||
| Laboratory Findings | 436 | ||
| Pulmonary Function Testing | 436 | ||
| Bronchoscopy, Bronchoalveolar Lavage, Microbiologic Culture | 436 | ||
| Histopathology | 436 | ||
| Biomarkers | 436 | ||
| NATURAL HISTORY | 437 | ||
| THERAPY | 437 | ||
| Current Therapy | 437 | ||
| Experimental Approaches | 438 | ||
| KNOWLEDGE GAPS AND FUTURE RESEARCH | 438 | ||
| ACKNOWLEDGMENTS | 438 | ||
| REFERENCES | 438 | ||
| Pulmonary Alveolar Microlithiasis | 441 | ||
| Key points | 441 | ||
| INTRODUCTION | 441 | ||
| EPIDEMIOLOGY | 441 | ||
| PATHOLOGY | 442 | ||
| Molecular Pathogenesis | 442 | ||
| Histology | 444 | ||
| CLINICAL FEATURES | 444 | ||
| Symptoms and Signs | 444 | ||
| Clinical Testing | 444 | ||
| Radiology | 444 | ||
| Extrapulmonary Disease | 445 | ||
| Associated Diseases | 445 | ||
| DIAGNOSIS | 445 | ||
| DIFFERENTIAL DIAGNOSIS | 445 | ||
| PROGNOSIS | 446 | ||
| PHARMACOLOGIC TREATMENT OPTIONS | 446 | ||
| Etidronate | 446 | ||
| Steroid Hormones | 446 | ||
| Bronchoalveolar Lavage | 446 | ||
| Oxygen Therapy and Vaccinations | 446 | ||
| SURGICAL TREATMENT OPTIONS | 446 | ||
| Lung Transplantation | 446 | ||
| SUMMARY | 446 | ||
| REFERENCES | 446 | ||
| Primary Ciliary Dyskinesia | 449 | ||
| Key points | 449 | ||
| INTRODUCTION | 449 | ||
| STRUCTURE AND FUNCTION OF MOTILE CILIA | 450 | ||
| ULTRASTRUCTURAL AND FUNCTIONAL DIAGNOSTIC TESTS | 450 | ||
| GENETIC TESTING FOR DIAGNOSIS | 453 | ||
| EARLY FEATURES OF CLINICAL DISEASE | 455 | ||
| LUNG DISEASE | 455 | ||
| NONPULMONARY MANIFESTATIONS | 456 | ||
| MANAGEMENT OF LUNG DISEASE | 456 | ||
| MANAGEMENT OF OTOLARYNGOLOGIC MANIFESTATIONS | 457 | ||
| FUTURE DIRECTIONS | 457 | ||
| ACKNOWLEDGMENTS | 458 | ||
| REFERENCES | 458 | ||
| Lymphocytic Interstitial Pneumonia | 463 | ||
| Key points | 463 | ||
| INTRODUCTION | 463 | ||
| PATHOGENESIS | 464 | ||
| EPIDEMIOLOGY | 466 | ||
| CLINICAL PRESENTATION | 466 | ||
| RADIOGRAPHIC MANIFESTATIONS | 466 | ||
| PULMONARY FUNCTION TESTS | 468 | ||
| DIAGNOSIS | 468 | ||
| PATHOLOGIC FEATURES | 468 | ||
| LYMPHOCYTIC INTERSTITIAL PNEUMONIA AND LYMPHOMA: DIFFERENTIATING FEATURES | 469 | ||
| TREATMENT AND PROGNOSIS | 469 | ||
| SUMMARY | 471 | ||
| REFERENCES | 471 | ||
| Birt-Hogg-Dubé Syndrome | 475 | ||
| Key points | 475 | ||
| INTRODUCTION | 475 | ||
| GENETICS AND PATHOGENESIS | 475 | ||
| Folliculin and Its Role as a Tumor Suppressor | 476 | ||
| Mechanism of Action of Folliculin in Tumor Formation | 476 | ||
| Role of Folliculin in Formation of Pulmonary Cysts | 476 | ||
| CLINICAL MANIFESTATIONS | 477 | ||
| Pulmonary | 477 | ||
| Renal | 478 | ||
| Cutaneous | 478 | ||
| Other Clinical Manifestations | 478 | ||
| RADIOGRAPHIC FEATURES OF BIRT-HOGG-DUBÉ SYNDROME | 479 | ||
| Pulmonary | 479 | ||
| Renal | 480 | ||
| HISTOPATHOLOGIC FEATURES OF BIRT-HOGG-DUBÉ SYNDROME | 480 | ||
| Pulmonary | 480 | ||
| Renal | 481 | ||
| Skin | 481 | ||
| DIAGNOSTIC APPROACH | 481 | ||
| MANAGEMENT | 482 | ||
| Management of Skin Lesions | 482 | ||
| Management of the Pulmonary Aspects of Birt-Hogg-Dubé Syndrome | 482 | ||
| Management of the Renal Manifestations of Birt-Hogg-Dubé Syndrome | 483 | ||
| SUMMARY | 483 | ||
| REFERENCES | 483 | ||
| α1-Antitrypsin Deficiency | 487 | ||
| Key points | 487 | ||
| INTRODUCTION | 487 | ||
| GENETICS OF α1-ANTITRYPSIN DEFICIENCY | 487 | ||
| EPIDEMIOLOGY OF α1-ANTITRYPSIN DEFICIENCY | 488 | ||
| DIAGNOSIS OF α1-ANTITRYPSIN DEFICIENCY | 489 | ||
| PATHOPHYSIOLOGY | 490 | ||
| PULMONARY MANIFESTATIONS OF α1-ANTITRYPSIN DEFICIENCY | 493 | ||
| NATURAL HISTORY OF α1-ANTITRYPSIN DEFICIENCY–RELATED LUNG DISEASE | 493 | ||
| LIVER DISEASE IN α1-ANTITRYPSIN DEFICIENCY | 495 | ||
| VASCULITIS IN α1-ANTITRYPSIN DEFICIENCY | 496 | ||
| PANNICULITIS AND OTHER PROPOSED DISEASE ASSOCIATIONS WITH α1-ANTITRYPSIN DEFICIENCY | 496 | ||
| TREATMENT OF α1-ANTITRYPSIN DEFICIENCY | 496 | ||
| Augmentation Therapy | 496 | ||
| Lung Transplantation | 498 | ||
| Lung Volume Reduction | 499 | ||
| FUTURE DIRECTIONS | 500 | ||
| REFERENCES | 500 | ||
| Hermansky-Pudlak Syndrome | 505 | ||
| Key points | 505 | ||
| INTRODUCTION | 505 | ||
| EPIDEMIOLOGY | 505 | ||
| PATHOGENESIS | 506 | ||
| DIAGNOSIS | 506 | ||
| Clinical Features | 506 | ||
| Diagnostic Testing | 507 | ||
| Platelet electron microscopy | 507 | ||
| Genetic testing | 507 | ||
| Diagnosis of Interstitial Lung Disease | 508 | ||
| High-resolution computed tomography of the chest | 508 | ||
| NATURAL HISTORY AND PROGNOSIS | 508 | ||
| CLINICAL MANAGEMENT | 509 | ||
| Management of Pulmonary Disease | 509 | ||
| Pirfenidone in Hermansky-Pudlak Syndrome with Pulmonary Fibrosis | 509 | ||
| Lung Transplantation | 509 | ||
| Additional Recommendations for Pulmonary Management | 509 | ||
| Management of Extrapulmonary Complications | 509 | ||
| Skin and eye protection | 509 | ||
| Bleeding complications | 509 | ||
| Inflammatory bowel disease | 509 | ||
| FUTURE DIRECTIONS | 510 | ||
| SUMMARY | 510 | ||
| REFERENCES | 510 | ||
| Hereditary Hemorrhagic Telangiectasia | 513 | ||
| Key points | 513 | ||
| INTRODUCTION | 513 | ||
| GENETICS | 513 | ||
| DIAGNOSIS | 514 | ||
| PULMONARY INVOLVEMENT | 514 | ||
| Pulmonary Arteriovenous Malformations | 514 | ||
| Bronchial Telangiectasias | 515 | ||
| Pulmonary Hypertension | 516 | ||
| NASAL INVOLVEMENT | 517 | ||
| CENTRAL NERVOUS SYSTEM INVOLVEMENT | 517 | ||
| GASTROINTESTINAL INVOLVEMENT | 518 | ||
| HEPATIC INVOLVEMENT | 518 | ||
| SUMMARY | 519 | ||
| REFERENCES | 519 | ||
| Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease | 523 | ||
| Key points | 523 | ||
| INTRODUCTION | 523 | ||
| PULMONARY VENO-OCCLUSIVE DISEASE | 523 | ||
| History | 523 | ||
| Pathology | 524 | ||
| Epidemiology | 524 | ||
| Risk Factors | 524 | ||
| Genetic Factors | 524 | ||
| Clinical Features | 525 | ||
| Imaging | 525 | ||
| Laboratory Studies | 526 | ||
| Hemodynamics | 526 | ||
| Prognosis and Therapy | 526 | ||
| PULMONARY CAPILLARY HEMANGIOMATOSIS | 527 | ||
| History | 527 | ||
| Pathology | 527 | ||
| Epidemiology | 528 | ||
| Risk Factors | 528 | ||
| Genetic Factors | 528 | ||
| Clinical Presentation | 528 | ||
| Imaging | 528 | ||
| Laboratory Studies | 528 | ||
| Hemodynamics | 528 | ||
| Prognosis | 528 | ||
| Therapy | 528 | ||
| PULMONARY VENO-OCCLUSIVE DISEASE AND PULMONARY CAPILLARY HEMANGIOMATOSIS: SPECTRUM OF A SINGLE DISEASE OR DISTINCT ENTITIES? | 529 | ||
| Histologic Overlap | 530 | ||
| Genetic Overlap | 531 | ||
| PULMONARY VENO-OCCLUSIVE DISEASE AND PULMONARY CAPILLARY HEMANGIOMATOSIS: DIAGNOSTIC APPROACH | 531 | ||
| SUMMARY | 531 | ||
| ACKNOWLEDGMENTS | 531 | ||
| REFERENCES | 531 | ||
| Eosinophilic Lung Diseases | 535 | ||
| Key points | 535 | ||
| DEFINITION AND CLASSIFICATION | 535 | ||
| Definition | 535 | ||
| Classification | 535 | ||
| PATHOPHYSIOLOGY | 536 | ||
| Recruitment of Eosinophils to the Lung | 536 | ||
| Eosinophils and Immunity | 536 | ||
| IDIOPATHIC CHRONIC EOSINOPHILIC PNEUMONIA | 536 | ||
| Epidemiology and Risk Factors | 536 | ||
| Clinical Description | 537 | ||
| Chest Imaging | 537 | ||
| Laboratory Findings | 537 | ||
| Pathogenesis | 538 | ||
| Lung Function | 538 | ||
| Pathology | 538 | ||
| Diagnosis | 538 | ||
| Treatment and Outcome | 539 | ||
| IDIOPATHIC ACUTE EOSINOPHILIC PNEUMONIA | 539 | ||
| Epidemiology and Risk Factors | 539 | ||
| Clinical Description | 539 | ||
| Chest Imaging | 540 | ||
| Laboratory Findings | 540 | ||
| Lung Function | 540 | ||
| Pathology | 540 | ||
| Diagnosis | 540 | ||
| Treatment and Outcome | 541 | ||
| EOSINOPHILIC GRANULOMATOSIS WITH POLYANGIITIS | 541 | ||
| Definition | 541 | ||
| Epidemiology and Risk Factors | 541 | ||
| Clinical Description | 541 | ||
| Chest Imaging | 542 | ||
| Laboratory Findings | 542 | ||
| Lung Function | 542 | ||
| Pathology | 543 | ||
| Diagnosis | 543 | ||
| Treatment and Outcome | 543 | ||
| ALLERGIC BRONCHOPULMONARY ASPERGILLOSIS | 544 | ||
| Epidemiology and Pathogenesis | 544 | ||
| Clinical Description | 544 | ||
| Chest Imaging | 545 | ||
| Laboratory Findings | 545 | ||
| Pathology | 545 | ||
| Diagnosis | 545 | ||
| Treatment and Outcome | 546 | ||
| OTHER EOSINOPHILIC LUNG DISEASES | 546 | ||
| Idiopathic Hypereosinophilic Syndromes | 546 | ||
| Idiopathic Hypereosinophilic Obliterative Bronchiolitis | 547 | ||
| Eosinophilic Pneumonias in Parasitic Diseases | 547 | ||
| Eosinophilic Pneumonias Induced by Drugs and Toxics | 547 | ||
| Radiation Therapy | 548 | ||
| Miscellaneous | 548 | ||
| PRACTICAL APPROACH TO DIAGNOSIS AND TREATMENT | 548 | ||
| REFERENCES | 548 | ||
| Hyper-IgE Syndromes and the Lung | 557 | ||
| Key points | 557 | ||
| INTRODUCTION | 557 | ||
| AUTOSOMAL-DOMINANT HYPER-IGE SYNDROMES (JOB SYNDROME) | 558 | ||
| Pulmonary Features | 558 | ||
| Other Clinical Features | 558 | ||
| Laboratory Findings | 560 | ||
| Genetics and Pathogenesis | 560 | ||
| Management | 561 | ||
| DOCK8 DEFICIENCY | 562 | ||
| Clinical Features | 562 | ||
| Laboratory Findings | 562 | ||
| Genetics and Pathogenesis | 563 | ||
| Management | 563 | ||
| PGM3 DEFICIENCY | 563 | ||
| Clinical Features | 563 | ||
| Laboratory Findings | 564 | ||
| Genetics and Pathogenesis | 564 | ||
| Management | 564 | ||
| SUMMARY | 564 | ||
| REFERENCES | 564 | ||
| Immunoglobulin G4-Related Disease and the Lung | 569 | ||
| Key points | 569 | ||
| INTRODUCTION | 569 | ||
| EPIDEMIOLOGY | 569 | ||
| PATHOGENESIS | 570 | ||
| Immunologic Mechanisms | 570 | ||
| Immunoglobulin G4 | 570 | ||
| Genetic Predisposition | 570 | ||
| Microorganisms | 570 | ||
| PATHOLOGY | 570 | ||
| Clinical Manifestations | 570 | ||
| Symptoms | 570 | ||
| Immunoglobulin G4-Related Lung Disease | 570 | ||
| Parenchymal Lung Manifestations | 571 | ||
| Airway Manifestations | 572 | ||
| Pulmonary Vascular Manifestations | 572 | ||
| Mediastinal Manifestations | 572 | ||
| Pleural Manifestations | 572 | ||
| DIAGNOSTIC EVALUATION | 572 | ||
| Immunoglobulin G4 Immunostain | 573 | ||
| Serum Immunoglobulin G4 Level | 574 | ||
| Other Laboratory Tests | 574 | ||
| BRONCHOALVEOLAR LAVAGE | 574 | ||
| TREATMENT | 574 | ||
| Corticosteroids | 574 | ||
| Steroid-Sparing Immunosuppressive Agents | 575 | ||
| B-Cell Depletion Therapy | 575 | ||
| PROGNOSIS | 575 | ||
| SUMMARY | 575 | ||
| REFERENCES | 575 | ||
| Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia and Neuroendocrine Hyperplasia of Infancy | 579 | ||
| Key points | 579 | ||
| INTRODUCTION | 579 | ||
| DIFFUSE IDIOPATHIC NEUROENDOCRINE EPITHELIAL CELL HYPERPLASIA | 580 | ||
| Imaging | 580 | ||
| Airway abnormalities | 580 | ||
| Pulmonary nodules | 581 | ||
| Biochemical Testing | 581 | ||
| Physiology | 581 | ||
| Pathology | 582 | ||
| Management and Treatment | 584 | ||
| NEUROENDOCRINE HYPERPLASIA OF INFANCY | 584 | ||
| Imaging | 584 | ||
| Physiology | 585 | ||
| Pathology | 585 | ||
| Management and Treatment | 585 | ||
| Pathogenesis | 585 | ||
| SUMMARY AND DISCUSSION | 586 | ||
| REFERENCES | 586 | ||
| Benign Metastasizing Leiomyoma | 589 | ||
| Key points | 589 | ||
| INTRODUCTION | 589 | ||
| CLINICAL PRESENTATION | 590 | ||
| IMAGING STUDIES | 590 | ||
| PATHOLOGY | 590 | ||
| PATHOGENESIS | 591 | ||
| DIAGNOSIS | 592 | ||
| TREATMENT | 593 | ||
| PROGNOSIS | 593 | ||
| SUMMARY | 593 | ||
| REFERENCES | 594 | ||
| Index | 597 |