Blancos Overview of Alpha-1 Antitrypsin Deficiency: History, Biology, Pathophysiology, Related Diseases, Diagnosis and Treatment

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.

Presents the fundamental theoretical and practical aspects of Alpha-1 Antitrypsin Deficiency (AATD) based on scientific evidenceProvides evidence to show that AATD is a rarely diagnosed condition, rather than a rare conditionContains current research and future perspectives from Dr. Ignacio Blanco, a worldwide expert in the field of alpha-1 antitrypsin and lung and liver disease associated with the deficiency of this antiproteaseProvides resources to current registries and patient associations

1. Alpha-1 Antitrypsin Deficiency: Introduction and History 2. Serpins and Serpinopathies 3. Alpha-1 Antitrypsin Biology 4. Alpha-1 Antitrypsin Gene, Genetic Heritage, Phenotypes, and Genotypes 5. Alpha-1 Antitrypsin Deficiency: Liver Pathophysiology 6. Alpha-1 Antitrypsin Deficiency: Lung Pathophysiology 7. Genetic Epidemiology 8. Laboratory Diagnosis 9. Clinical Diagnosis 10. Liver Disease Associated With Alpha-1 Antitrypsin Deficiency 11. Respiratory Manifestations of the Alpha-1 Antitrypsin Deficiency 12. Other Diseases Associated With Alpha-1 Antitrypsin Deficiency 13. Clinical Management and Treatment of Lung Disease 14. Registries and Patients’ Associations 15. Current Research and Future Perspectives