Natural History and Life Expectancy in Severe Alpha₁‐Antitrypsin Deficiency, Pi Z

TLDR

The study analyzed clinical data from 246 Swedish adults with severe Pi Z α1‑antitrypsin deficiency diagnosed between 1963 and 1977. Among the cohort, 109 had primary emphysema, 75 with other COPD types mostly had emphysema, smokers developed dyspnea earlier (median 40 vs 53 years), 19 % over 50 had liver cirrhosis and 15 % had renal damage, 56 of 91 deaths were due to COPD, 12 to liver disease, overall survival was markedly reduced regardless of sex, and smoking Pi 2 individuals had a significantly lower life expectancy than Pi Z non‑smokers. Abstract.

Abstract

ABSTRACT. Clinical data from 246 adult Swedish individuals with severe α 1 ‐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<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 2 individuals had a significantly lower life expectancy than Pi Z non‐smokers (p<0.01).