Table 2.
Index Case with Alpha-1 Antitrypsin Deficiency Incidentally Discovered by Direct-to-Consumer Genetic Testing, and Her Two Sisters
| Case 3 | Sibling 1 | Sibling 2 | |
|---|---|---|---|
| Age, yr | 49 | 45 | 50 |
| Sex | Female | Female | Female |
| Alpha-1 antitrypsin genotype | PI*ZZ | PI*ZZ | PI*ZZ |
| Alpha-1 antitrypsin level, μM | 6.3 | 6.3 | 6.9 |
| Alpha-1 antitrypsin level, mg/dl | 33 | 33 | 36 |
| FEV1, L (% predicted) | 3.38 (90) | 3.61 (107) | 3.0 (101) |
| FVC, L (% predicted) | 5.01 (104) | 5.26 (126) | 3.9 (106) |
| FEV1/FVC ratio | 0.67 | 0.69 | 0.77 |
| Total lung capacity, L (% predicted) | 7.49 (109) | 7.23 (121) | 7.7 (141) |
| DlCO, ml/min/mm Hg (% predicted) | 20.4 (60) | 24.5 (80) | 19.8 (71) |