Alpha-1 antitrypsin deficiency and replacement therapy – Current developments and clinical significance (UNI-MED Science) (Original PDF from Publisher)

Alpha-1 antitrypsin deficiency and replacement therapy – Current developments and clinical significance (UNI-MED Science) (Original PDF from Publisher)

Written by Andreas Rembert Koczulla

A frequent genetic disease in Europe is alpha-1 antitrypsin deficiency (AATD) .

The protease-antiprotease equilibrium is upset as a result of the decreased A1AT serum level , which might , among other things , cause an early onset of emphysema . Another issue with AATD is that it is believed that only 5 to 15% of all homozygous patients have been found as of yet , which contributes to its underdiagnosis. The diagnostic process often takes five years or longer .

This textbook gives a general review of AATD , including its causes and genetics , diagnosis and treatment , the function of comorbidities , as well as other issues like immunizations , sports and physical activity , as well as the extremely intricate aspects of a lung transplant . The growing significance of imaging, the overall clinical assessment , and the requirement for follow-up exams are all covered . The end result is a volume that is particularly focused on practice and will be very beneficial in routine clinical practice for the treatment of individuals with AATD .

See also : Inherited Disorders of Biogenic Amines: A Practical Guide (UNI-MED Science) (Original PDF from Publisher)