This book offers a comprehensive overview of alpha-1 antitrypsin deficiency, an inherited condition that leads to lung disease in adults and liver disease in adults and children. While it is a rare condition, the mechanisms underlying its clinical manifestations have been largely clarified. Specific treatment, however, is available only for the lung disease that arises from the condition, thus necessitating continued research into new and alternative therapeutic solutions. The book discusses the biology of alpha-1 antitrypsin, protein misfolding and polymerization, and diagnosis and treatment of alpha-1 antitrypsin deficiency and its associated diseases. It concludes with a discussion of alpha-1 antitrypsin therapy in diseases not associated with alpha-1 antitrypsin deficiency, and the role of healthcare organizations in the rare disease space. Written for pulmonary clinicians and scientists, Alpha-1 Antitrypsin: Role in Health and Disease is a valuable resource that sheds light on this rare disease.

Autorentext

Adam Wanner, MD
Division of Pulmonary and Critical Care Medicine
Miller School of Medicine
University of Miami
Miami, FL, USA

Robert A. Sandhaus, MD, PhD
Division of Pulmonary, Critical Care, and Sleep Medicine
National Jewish Health
Denver, CO, USA

Inhalt
Alpha-1- Antitrypsin and the Serpins.- Alpha-1 Antitrypsin: The protein.- Misfolding and Polymerisation of Alpha1-Antitrypsin Conformational Pathology and Therapeutic Targeting.- Managing the Adaptive Proteostatic Landscape: Restoring Resilience in Alpha-1 Antitrypsin Deficiency.- United States Targeted Detection Program for Alpha-1 Antitrypsin Deficiency.- Lung Disease of Alpha-1 Antitrypsin Deficiency.- Alpha-1-Antitrypsin Deficiency: Role in Health and Disease.- Alpha-1 Antitrypsin as a Therapeutic Agents for Conditions not Associated with Alpha-1 Antitrypsin Deficiency.- The Alpha-1 Constellation of Voluntary Health Organizations as a Paradigm for Confronting Other Rare Diseases.