Blanco’s Overview of Alpha-1 Antitrypsin Deficiency: History, Biology, Pathophysiology, Related Diseases, Diagnosis, and Treatment is a robust introduction to topics associated with Alpha-1 Antitrypsin Deficiency (AATD). Included are topics ranging from the history of the disease, biology, pathophysiology, related diseases, including the two major manifestations of the disease (liver disease and lung disease), and diagnosis and treatment.
The book addresses the need for the amalgamation of current and novel concepts and practices in the field of AATD. AATD is under-recognized in the medical community and, as a result, it is underdiagnosed. The book provides increased awareness and understanding of the condition to improve diagnosis rates and enhance patient care. This book is an essential tool and reference, beneficial to clinicians who screen and treat AATD patients, as well as research scientists working in the AATD field at junior and senior levels.
1. Chapter 1: Alpha-1 Antitrypsin Deficiency: Introduction and History - p. xv 2. Chapter 2: Serpins and Serpinopathies - p. 11 3. Chapter 3: Alpha-1 Antitrypsin Biology - p. 22 4. Chapter 4: Alpha-1 Antitrypsin Gene, Genetic Heritage, Phenotypes, and Genotypes - p. 37 5. Chapter 5: Alpha-1 Antitrypsin Deficiency: Liver Pathophysiology - p. 49 6. Chapter 6: Alpha-1 Antitrypsin Deficiency: Lung Pathophysiology - p. 65 7. Chapter 7: Genetic Epidemiology - p. 87 8. Chapter 8: Laboratory Diagnosis - p. 101 9. Chapter 9: Clinical Diagnosis - p. 114 10. Chapter 10: Liver Disease Associated With Alpha-1 Antitrypsin Deficiency - p. 128 11. Chapter 11: Respiratory Manifestations of the Alpha-1 Antitrypsin Deficiency - p. 141 12. Chapter 12: Other Diseases Associated With Alpha-1 Antitrypsin Deficiency - p. 157 13. Chapter 13: Clinical Management and Treatment of Lung Disease - p. 174 14. Chapter 14: Registries and Patients’ Associations - p. 191 15. Chapter 15: Current Research and Future Perspectives - p. 206 16. Index - p. 227
Blanco’s Overview of Alpha-1 Antitrypsin Deficiency: History, Biology, Pathophysiology, Related Diseases, Diagnosis, and Treatment is a robust introduction to topics associated with Alpha-1 Antitrypsin Deficiency (AATD). Included are topics ranging from the history of the disease, biology, pathophysiology, related diseases, including the two major manifestations of the disease (liver disease and lung disease), and diagnosis and treatment.
The book addresses the need for the amalgamation of current and novel concepts and practices in the field of AATD. AATD is under-recognized in the medical community and, as a result, it is underdiagnosed. The book provides increased awareness and understanding of the condition to improve diagnosis rates and enhance patient care. This book is an essential tool and reference, beneficial to clinicians who screen and treat AATD patients, as well as research scientists working in the AATD field at junior and senior levels.
1. Chapter 1: Alpha-1 Antitrypsin Deficiency: Introduction and History - p. xv 2. Chapter 2: Serpins and Serpinopathies - p. 11 3. Chapter 3: Alpha-1 Antitrypsin Biology - p. 22 4. Chapter 4: Alpha-1 Antitrypsin Gene, Genetic Heritage, Phenotypes, and Genotypes - p. 37 5. Chapter 5: Alpha-1 Antitrypsin Deficiency: Liver Pathophysiology - p. 49 6. Chapter 6: Alpha-1 Antitrypsin Deficiency: Lung Pathophysiology - p. 65 7. Chapter 7: Genetic Epidemiology - p. 87 8. Chapter 8: Laboratory Diagnosis - p. 101 9. Chapter 9: Clinical Diagnosis - p. 114 10. Chapter 10: Liver Disease Associated With Alpha-1 Antitrypsin Deficiency - p. 128 11. Chapter 11: Respiratory Manifestations of the Alpha-1 Antitrypsin Deficiency - p. 141 12. Chapter 12: Other Diseases Associated With Alpha-1 Antitrypsin Deficiency - p. 157 13. Chapter 13: Clinical Management and Treatment of Lung Disease - p. 174 14. Chapter 14: Registries and Patients’ Associations - p. 191 15. Chapter 15: Current Research and Future Perspectives - p. 206 16. Index - p. 227
