Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic defects in Europe. As a consequence of the lowered A1AT serum level, the protease-antiprotease balance is disturbed, which among others can lead to an early development of emphysema. The underdiagnosis of AATD is another problematic aspect because it is suspected that only about 5 to 15% of all homozygous patients are currently identified. Usually there is also a diagnostic delay, which can be 5 years or more.
This textbook provides an overview of AATD with causes and genetics, diagnosis and therapy, the role of...