Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z.
Clinical data from 246 adult Swedish individuals with severe alpha1-antitrypsin deficiency, Pi Z, diagnosed in 1963--77, were analyzed. Primary emphysema was present in 109 cases. Of 75 Pi Z patients with other types of chronic obstructive pulmonary disease (COPD), all but 7 showed signs of emphysema. Median age at onset of dyspnoea in Pi Z smokers was 40 years, compared to 53 in non-smokers (p less than 0.001). Of the Pi Z individuals over the age of 50, 19% had a diagnosis of liver cirrhosis and 15% signs of glomerular renal damage. Of 91 deceased patients, 56 died from COPD and 12 from liver disease. A greatly reduced survival was demonstrated in Pi Z individuals, regardless of sex. Smoking Pi Z individuals had a significantly lower life expectancy than Pi Z non-smokers (p less than 0.01).
D000328:Adult; D000368:Aged; D001249:Asthma / Q000401:mortality; D001991:Bronchitis / Q000401:mortality; D005260:Female; D006801:Humans; D008017:Life Expectancy; D008103:Liver Cirrhosis / Q000401:mortality; D008173:Lung Diseases, Obstructive / Q000401:mortality*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000401:mortality; D012907:Smoking; D013548:Sweden; D019896:alpha 1-Antitrypsin Deficiency