Alpha-1-antitrypsin Deficiency

Book excerpt: Alpha-1-antitrypsin Deficiency: Biology, Diagnosis, Clinical Significance, and Emerging Therapies is the authoritative reference on AATD, providing standards for diagnosis, monitoring, treatment and appropriate avenues of research. The book covers the disease from basic biology and epidemiology, to clinical impact, and includes the understanding of the natural history of the disease and the significant advances that have been made in the last 20 years, including the three-dimensional structure of the molecule, its broad biological activity and improved therapeutic options, including replacement therapy and gene therapy. The editors have recruited international experts in the field to contribute evidence-based chapters and insights on future developments in the understanding of this disease. - Provides documentation of the variations in clinical presentation and pathology in a single reference - Presents new insights by pulling together the advances in the understanding of the structure and function of alpha1-antitrypsin deficiency with the genetic variants that cause the disease - Allows for easy reference for the diagnosis of AATD to lead to better therapeutics