Most adults with PI ZZ α1-AT deficiency are identified by their pulmonaryMedical term referring to the lungs. symptoms and show signs and symptoms of chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. obstructive pulmonaryMedical term referring to the lungs. disease, with emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. developing in about 80% to 100% of individuals with that phenotype. This condition is frequently aggravated by cigarette smoking. The emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. associated with α1-AT deficiency has distinctive features, including early onset (in the fourth or fifth decade of life), predominant involvement of the lung bases, and panacinar pathology. In contrast, individuals with α1-AT-replete emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed. are older, with predominantly apical and centrilobular emphysemaObstructive airway disease in which the walls of the alveoli (air sacs) are damaged or destroyed..
The prevalence of associated liver disease has probably been underestimated, but 10% to 40% of these adults may have evidence of cirrhosisCirrhosis is a condition (not a disease) that results from permanent damage or scarring of the liver. Source: Canadian Liver Foundation. The risk of cirrhosisCirrhosis is a condition (not a disease) that results from permanent damage or scarring of the liver. Source: Canadian Liver Foundation becomes higher with advancing years, particularly in men. In these cases, a man older than 50 years with evidence of cirrhosisCirrhosis is a condition (not a disease) that results from permanent damage or scarring of the liver. Source: Canadian Liver Foundation, portal hypertension, or hepatocellular carcinoma with no underlying predisposing cause should evoke suspicion of an underlying metabolic defect such as hemochromatosis or α1-AT deficiency. The features of the liver disease appear to be rapidly progressive when diagnosed at this stage, with a high likelihood of death within 4 years of the identification of liver disease.
Alpha1-Antitrypsin Deficiency – Cleveland Clinic
