Blanco's Overview of Alpha-1 Antitrypsin Deficiency

Blanco's Overview of Alpha-1 Antitrypsin Deficiency

History, Biology, Pathophysiology, Related Diseases, Diagnosis and Treatment

1st Edition - April 28, 2017

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  • Author: Ignacio Blanco
  • eBook ISBN: 9780128095416
  • Hardcover ISBN: 9780128095300

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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.

Key Features

  • Presents the fundamental theoretical and practical aspects of Alpha-1 Antitrypsin Deficiency (AATD) based on scientific evidence
  • Provides evidence to show that AATD is a rarely diagnosed condition, rather than a rare condition
  • Contains 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 antiprotease
  • Provides resources to current registries and patient associations


Scientists involved in respiratory and pulmonary research, respiratory and pulmonology physicians, hepatologists, dermatologists, renal physicians, radiologists, general physicians

Table of Contents

  • Chapter 1: Alpha-1 Antitrypsin Deficiency: Introduction and History

    • Abstract
    • 1.1. Introduction
    • 1.2. History of the alpha-1 antitrypsin deficiency

    Chapter 2: Serpins and Serpinopathies

    • Abstract
    • 2.1. Introduction
    • 2.2. The serpin superfamily

    Chapter 3: Alpha-1 Antitrypsin Biology

    • Abstract
    • 3.1. Structure
    • 3.2. Synthesis and secretion
    • 3.3. Substrate
    • 3.4. Properties

    Chapter 4: Alpha-1 Antitrypsin Gene, Genetic Heritage, Phenotypes, and Genotypes

    • Abstract
    • 4.1. The alpha-1 antitrypsin gene
    • 4.2. The “protease inhibitor” system
    • 4.3. Genetic inheritance
    • 4.4. Nomenclature

    Chapter 5: Alpha-1 Antitrypsin Deficiency: Liver Pathophysiology

    • Abstract
    • 5.1. Introduction
    • 5.2. The Z and S mutations
    • 5.3. Pathophysiology
    • 5.4. Clinical expression

    Chapter 6: Alpha-1 Antitrypsin Deficiency: Lung Pathophysiology

    • Abstract
    • 6.1. Introduction
    • 6.2. Physiopathological mechanisms of alpha-1 antitrypsin deficiency-related COPD
    • 6.3. Clinical expression

    Chapter 7: Genetic Epidemiology

    • Abstract
    • 7.1. Introduction
    • 7.2. Pi*Z frequency and prevalence in Europe
    • 7.3. Pi*Z frequency in the world
    • 7.4. Number and distribution of Pi*ZZ genotypes in Europe
    • 7.5. Number and distribution of Pi*ZZ genotypes in America
    • 7.6. Number and distribution of Pi*ZZ genotypes in Africa, Asia, Australia, and New Zealand
    • 7.7. Pi*S frequency distribution in the world
    • 7.8. Number and distribution of Pi*SZ genotypes in the world

    Chapter 8: Laboratory Diagnosis

    • Abstract
    • 8.1. Introduction
    • 8.2. Clinical situations in which alpha-1 antitrypsin deficiency should be suspected
    • 8.3. Measurement of serum alpha1-antitrypsin levels
    • 8.4. Identification of alpha-1 antitrypsin phenotypes
    • 8.5. Alpha-1 antitrypsin genotyping
    • 8.6. Screening of alpha-1 antitrypsin deficiency in dried blood spot samples
    • 8.7. Neonatal screening and prenatal diagnosis
    • 8.8. Determining the ability of the alpha-1 antitrypsin to inhibit neutrophil elastase
    • 8.9. Laboratory liver function tests
    • 8.10. Conclusions

    Chapter 9: Clinical Diagnosis

    • Abstract
    • 9.1. Introduction
    • 9.2. Risk for diseases associated with the different alpha-1 antitrypsin deficiency genotypes
    • 9.3. “Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed”
    • 9.4. General population and newborn screenings
    • 9.5. Targeted detection
    • 9.6. Family studies
    • 9.7. Prenatal diagnosis
    • 9.8. Algorithms for alpha-1 antitrypsin deficiency diagnosis

    Chapter 10: Liver Disease Associated With Alpha-1 Antitrypsin Deficiency

    • Abstract
    • 10.1. Introduction
    • 10.2. Childhood-onset liver disease
    • 10.3. Adolescence and youth-onset liver disease
    • 10.4. Adult-onset liver disease
    • 10.5. Liver disease and heterozygosity
    • 10.6. Treatment

    Chapter 11: Respiratory Manifestations of the Alpha-1 Antitrypsin Deficiency

    • Abstract
    • 11.1. Introduction
    • 11.2. Childhood-onset lung disease
    • 11.3. Lung disease in adults

    Chapter 12: Other Diseases Associated With Alpha-1 Antitrypsin Deficiency

    • Abstract
    • 12.1. Introduction
    • 12.2. Granulomatosis with polyangiitis
    • 12.3. Neutrophilic panniculitis
    • 12.4. Fibromyalgia
    • 12.5. Rheumatoid arthritis
    • 12.6. Inflammatory bowel disease
    • 12.7. Miscellaneous

    Chapter 13: Clinical Management and Treatment of Lung Disease

    • Abstract
    • 13.1. Initial evaluation of the patient
    • 13.2. Genetic counseling
    • 13.3. Standard therapy for COPD
    • 13.4. Augmentation therapy with intravenous infusions of human plasma-derived alpha-1 antitrypsin

    Chapter 14: Registries and Patients’ Associations

    • Abstract
    • 14.1. Introduction
    • 14.2. The Alpha One International Registry
    • 14.3. European national registries
    • 14.4. American registries
    • 14.5. Patient care structures

    Chapter 15: Current Research and Future Perspectives

    • Abstract
    • 15.1. Introduction
    • 15.2. New strategies for augmentation therapy
    • 15.3. Strategies for increasing endogenous production of alpha-1 antitrypsin
    • 15.4. Lung cellular regeneration with trans-retinoic acid
    • 15.5. Strategies to block intracellular polymerization
    • 15.6. Gene therapy
    • 15.7. Oligonucleotide-based therapeutics targeting the AAT gene
    • 15.8. Correction of the Z-AAT gene in autologous induced pluripotent stem cells
    • 15.9. Autophagy-enhancing drugs
    • 15.10. Liver transplantation
    • 15.11. New therapeutic indications of alpha-1 antitrypsin

Product details

  • No. of pages: 252
  • Language: English
  • Copyright: © Academic Press 2017
  • Published: April 28, 2017
  • Imprint: Academic Press
  • eBook ISBN: 9780128095416
  • Hardcover ISBN: 9780128095300

About the Author

Ignacio Blanco

Ignacio Blanco
Ignacio Blanco is the coordinator of the Spanish Registry of Patients with Alpha-1 antitrypsin Deficiency (REDAAT); evaluator of research projects for the Spanish National Agency for Assessment and Forecasting (ANEP).

He is a retired physician and researcher and has held professorships in both the University of Oviedo and the University of Murcia.

Dr. Blanco was an influencial collaborator in the development of the Proyecto IDDEA for the identification and diagnosis of Alpha-1 Antitrypsin Defieciency (AATD) as well as the national screening program for AATD in COPD patients, based on the determination of the Alpha-1 Antitrypsin (AAT) genotype in the Central Laboratoy of the Spanish AAT Registry (Hospital Vall d’Hebron, Barcelona).

He is a founder and member of the Asturian Respiratory Society (ASTURPAR). He is also a member of the European Respiratory Society (ERS) and member of the Spanish Society of Pneumology and Thoracic Surgery (SEPAR). He hold two patents of invention.

Affiliations and Expertise

Secretary of State, Spanish Research, Science and Innovation Ministry

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