Some patients with alpha-1 antitrypsin deficiency may develop emphysema or other lung disease.
Lung disease may include:
(1) panlobular basal emphysema
Risk factors for lung disease:
(1) phenotype ZZ, Z-null or null-null (phenotypes associated with very low serum alpha-1 antitrypsin levels) and sometimes SZ
(2) active tobacco smoking or significant past smoking
(3) increasing age (onset may be as early as the early 20's, with the mean age of onset 40 years of age)
(4) male gender (may reflect higher rate of smoking)
(5) occupational dust exposure
The risk of emphysema increases significantly when the serum level is < 11 µM (< 60 mg/dL; ATS Table 3 page 825).
Patients with lung disease can be monitored by FEV1, which tends to decline more rapidly in patients with more severe disease.
Survival in significantly decreased if the FEV1 is < 30% of the predicted value, with further decline if < 15% of predicted.
According to Seersholm et al:
two year mortality rate =
= EXP((-0.058 * (FEV1 as percent of predicted))
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Purpose: To evaluate a patient with alpha-1 antitrypsin deficiency for risk of severe lung disease.
Specialty: Endocrinology, Clinical Laboratory, Gastroenterology
Objective: risk factors
ICD-10: E88.0, J84.9,