Definition (NCI)A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrho...
Alpha 1-antitrypsin is an antiprotease found in human plasma that inhibits the neutrophil elastase enzyme from degrading elastin tissues in the lung. Alpha-1-antitrypsin (AAT) deficiency is a hereditary disorder associated with the early onset of severe pulmonary emphysema in adults. Although alpha ...
Alpha-1-antitrypsin deficiency (AATD) is an autosomal codominant genetic disorder with a prevalence range of 1 per 2500 to 1 per 5000 individuals in Europe and North America that causes early pulmonary disease in adults and liver disease in children and adults1, and which often goes underdiagnose...
alpha-1 antitrypsin deficiency; chronic obstructive pulmonary disease; chronic disease; cardiovascular disease; ischemic heart disease; disability; rehabilitation; exercise; outcome1. Introduction Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that exhibits an autosomal codominant inheritance ...