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 comorbidities and further topics such as vaccinations sport and
physical activities as well as the very complex aspects of a lung transplant. The increasing
importance of imaging is addressed as well as the overall clinical evaluation and the need for
follow-up examinations. The result is a very practice-oriented volume that will be very helpful
in everyday clinical practice in the care of patients with AATD.
