Alpha 1-antitrypsin deficiency natural history, complications, and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun, M.D., Ph.D. [2]
Overview
Alpha 1-antitrypsin deficiency (A1AD) may be slow to manifest in symptom onset in newborns. As a patient ages, liver dysfunction and deterioration will occur. Mortality is directly related to the respiratory failure caused by a fall in forced expiratory volume.
Natural History
- Within the first two decades of life, liver dysfunction tends to dominate the clinical picture, while lung function is generally preserved.
- Two prospective studies have followed newborns identified at birth with blood screening for up to 16 years, and both showed no difference in lung function compared with controls.
- After the first 20 years, however, lung function begins to deteriorate at the rate mentioned above.
Respiratory failure accounts for ~ 62% of deaths, and complications of chronic liver disease for ~ 13%. The mean age of death in one study was 53 years old for nonsmokers and 40 years old for smokers, with only 16% surviving to 60 years old. This compares to ~ 85% surviving to 65 years old in the general population. Mortality is directly related to FEV1 (forced expiratory volume), and rises exponentially as FEV1 falls below 35% predicted. In a Danish study, asymptomatic nonsmokers, who were identified as relatives of symptomatic patients with alpha-1 AT had a normal life expectancy. This is consistent with the presence of a subgroup of patients with severe deficiency in alpha-1 AT who escape medical attention.
Complications
Common complications of AATD include
- pneumothorax
- pneumonia
- acute exacerbation of airflow obstruction
- respiratory failure.
Prognosis
Prognosis depends on how patients are identified. Patients identified as a result of screening often have excellent prognosis.
Those identified because of their symptoms have poor prognosis.
Features associated with poor prognosis include:
- Severe degree of airflow obstruction:
- FEV 1 >50% has a 5-y mortality rate at 4%;
- FEV 1 within range 35-49% has 5-y mortality rate at 12%;
- FEV 1 <35 has a 5-y mortality rate at 50%
- A bronchodilator response greater than >12%.
- Smoking
- Male sex