Prognosis

There is no cure for the disease but many individuals, especially non-smokers, have normal lifespans.[6][58]

Lung disease

Between 50% and 72% of deaths in AAT deficiency are caused by respiratory failure, which comprises a greater percentage of deaths than liver failure.[24][63][99]

Evidence suggests the median age of death in AAT deficiency is 40 years in smokers and 65 years in non-smokers, owing to early-onset emphysema and progressive lung disease.[24]

FEV1 should be used as a predictor of survival in these patients, as correlation has been established between 2-year mortality and FEV1 >35%.[100] Rates of decline of FEV1 range from 47 to 80 mL/year in people who have never smoked, 41 to 81 mL/year in ex-smokers, and 61 to 316 mL/year in smokers.[46]​​[47][48]​​​​ AAT augmentation therapy is effective in slowing radiographical evidence of lung disease, and also in providing mortality benefit.[62][63]

The 5-year survival rate following lung transplant is approximately 50%.[81][82][83]​​ Median survival is 6.3 years.[83]

Liver disease

Patients who are PI*ZZ and do not manifest pulmonary symptoms are more likely to experience cirrhosis and ultimately liver failure.[27]

Liver fibrosis has been detected in 20% to 36% of asymptomatic adults with PI*ZZ AAT deficiency, while the reported prevalence of cirrhosis ranges from 2% to 43%.[6][28][29] The prevalence of cirrhosis is higher in older PI*ZZ adults who have never smoked; one third of patients with advanced age and a homozygous phenotype will die of complications related to portal hypertension and primary liver cancer.[6]

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