A1AT Deficiency

Date: 18 Mar 2016 | Leave a comment


Important It is possible that the main title of the report Alpha-1-Antitrypsin Deficiencyis not the name you expected. Synonyms A1AT Deficiency AAT AAT Deficiency Antitrypsin Deficiency Cholestasis, Neonatal Familial Chronic Obstructive Lung Disease Familial Emphysema Hereditary Emphysema Homozygous Alpha-1-Antitrypsin Deficiency PI Pi Phenotype ZZ, Z- and -- Protease Inhibitor Deficiency Serum Protease Inhibitor Deficiency A1AD Alpha-1 Disorder Subdivisions None General Discussion Alpha-1 Antitrypsin Deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood. This deficiency may predispose an individual to several illnesses but most commonly appears as emphysema, less commonly as liver disease, or more rarely, as a skin condition called panniculitis. A deficiency of A1AT allows substances that break down protein (proteolytic enzymes) to attack various tissues of the body. This results in destructive changes in the lungs (emphysema) and may also affect the liver and skin. Alpha-1 Antitrypsin is ordinarily released by specialized, granular white blood cells (neutrophils) in response to infection or inflammation. A deficiency of Alpha-1 Antitrypsin results in unbalanced (relatively unopposed) rapid breakdown of proteins (protease activity), especially in the supporting elastic structures of the lungs. This destruction over many years leads to emphysema and is accelerated by smoking and some occupational exposures.

Share



Leave Comments