Alpha-1 Antitrypsin Deficiency (AATD): Understanding the Genetic Disorder and Its Implications

Alpha-1 antitrypsin deficiency (AATD) is a common genetic disorder affecting thousands of people in Europe, characterized by a reduced level of alpha-1 antitrypsin (A1AT) in the bloodstream. This deficiency disrupts the protease-antiprotease balance, increasing the risk of early emphysema development.

The Challenge of Underdiagnosis and Diagnostic Delay

A significant challenge in managing AATD is the underdiagnosis of the condition, with estimates suggesting that only 5-15% of homozygous patients are currently identified. Moreover, there is often a diagnostic delay of 5 years or more, which can worsen the condition and lead to further complications.

A Comprehensive Guide to AATD

This comprehensive textbook provides an in-depth overview of AATD, covering its causes and genetics, diagnosis, and therapy. The book also delves into the role of comorbidities, vaccinations, sports, and physical activities, as well as the complex aspects of lung transplantation. The importance of imaging and overall clinical evaluation are also addressed, highlighting the need for regular follow-up examinations.

This practice-oriented volume is an essential resource for healthcare professionals, providing valuable insights and guidance for everyday clinical practice in the care of patients with AATD.

Publication details: The 1st edition of this book was published on June 1, 2021, by UNI-MED Verlag AG, and is available in English.

By improving our understanding of AATD, we can work towards better diagnosis, treatment, and management of this genetic disorder, ultimately enhancing the quality of life for patients affected by it.