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

BEST BOOK AWARD 2019 FINALIST - HEALTH: GENERAL (AMERICAN BOOK FEST) A knowledgeable handbook with a patient's perspective for those afflicted with the incurable disease known as Alpha-1 Antitrypsin deficiency (A1AD). Alpha-1 Antitrypsin deficiency (A1AD) is a rare genetic, incurable disease which causes the liver to not produce enough of a certain protein that protects and keeps the lungs functional. 100,000 people in the United States have A1AD and 19 million more are carriers for the disease. Since it's so rare, the information available about A1AD has been lacking especially for those suffering unknowingly with the disease. Living with Alpha-1 Antitrypsin Deficiency offers the most up-to-date and comprehensive information on this illness and includes first-hand experience from someone managing the disease. Living with Alpha-1 Antitrypsin Deficiency also includes expert advice from doctors and researchers tackling the disease, with tips on recognizing symptoms and getting the most effective help possible.

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.

Sally Everett was about to turn fifty. A single parent and successful lawyer, she was, seemingly, a picture of health. She ate right, she didn't smoke, she was almost never sick, and she exercised regularly. Then a simple cold turned into pneumonia. She was hospitalized and x-rays were taken of her lungs. Subsequent blood tests clinched the diagnosis. Sally had chronic obstructive pulmonary disease (COPD) caused by Alpha-1, a genetic abnormality more common than cystic fibrosis. Her prognosis was, at best, ten years. At first Sally decided she could and would face this alone. Her subsequent struggles, candidly recounted here, are an invaluable resource for anyone with Alpha-1, COPD, or any chronic disease for that matter. Always careful to point out that your experience may not replicate hers, Sally walks you through her initial reaction to her diagnoses; learning how to cope; the role of exercise, oxygen and other therapies; genetic testing; clinical trials; facing depression and disability; and even end of life planning --

This Monograph offers a comprehensive and up-to-date overview of AATD. It covers basic biology, genetics, laboratory diagnostics and the major organ manifestations; describes the clinical presentation of AATD in both adults and children; and features chapters on genetic counselling, patient views and future therapies. The content has been tailored to meet the needs of the physician, who takes care of lung and liver patients in daily practice, and the general practitioner, who is responsible for the medical guidance of these patients.

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