TABLE 2.
Demographic and clinical characteristics of the Genomic Research in Alpha-1 Antitrypsin Deficiency and Sarcoidosis (GRADS) cohort categorised by the phenotypic groups
| Multiorgan | Nonacute stage I untreated | Stage II-III treated | Stage II-III untreated | Stage IV treated | Stage IV untreated | Acute untreated | Remitting untreated | |
|---|---|---|---|---|---|---|---|---|
| Total | 23 | 25 | 34 | 42 | 19 | 12 | 14 | 40 |
| Scadding stage | ||||||||
| 0 | 4 (17.4) | 0 (0.0) | 1 (2.9) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 2 (14.3) | 14 (35.0) |
| 1 | 7 (30.4) | 24 (96.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 9 (64.3) | 14 (35.0) |
| 2 | 6 (26.1) | 0 (0.0) | 23 (67.7) | 34 (81.0) | 0 (0.0) | 0 (0.0) | 3 (21.4) | 7 (17.5) |
| 3 | 4 (17.4) | 0 (0.0) | 10 (29.4) | 8 (19.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 5 (12.5) |
| 4 | 2 (8.7) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 19 (100) | 12 (100) | 0 (0.0) | 0 (0.0) |
| NA | 0 (0.0) | 1 (4.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) |
| Female | 12 (52.2) | 18 (72.0) | 18 (52.9) | 19 (45.2) | 9 (47.4) | 6 (50.0) | 9 (64.3) | 21 (52.5) |
| Age years | 54.6±10.8 30.9–69.6 |
46.2±10.9 27.3–64.9 |
54.3±9.9 34.8–74.9 |
50.2±9.3 26.0–68.2 |
52.9±8.0 39.3–69.5 |
49.8±10.4 32.7–63.6 |
51.4±12.2 30.8–66.9 |
52.2±9.8 26.3–71.5 |
| Race | ||||||||
| Caucasian/white | 15 (65.2) | 21 (84.0) | 22 (64.7) | 31 (73.8) | 13 (68.4) | 9 (75.0) | 9 (64.3) | 33 (82.5) |
| African American/black | 8 (34.8) | 4 (16.0) | 8 (23.5) | 10 (23.8) | 6 (31.6) | 3 (25.0) | 4 (28.6) | 6 (15.0) |
| Other | 0 (0.0) | 0 (0.0) | 4 (11.8) | 1 (2.4) | 0 (0.0) | 0 (0.0) | 1 (7.1) | 1 (2.5) |
| FEV1 L | 2.6±1.3 | 2.8±0.8 | 2.3±0.8 | 2.9±0.8 | 2.08±0.8 | 2.4±1.9 | 3.0±0.6 | 3.1±0.9 |
| FEV1 % pred | 90.0±13.4 | 84.5±30.9 | 78.6±20.2 | 84.24±26.2 | 69.5±21.3 | 84.2±25.9 | 86.1±39.4 | 96.2±21.4 |
| FVC L | 3.4±1.6 | 3.7±1.0 | 3.2±1.1 | 3.9±1.0 | 3.1±0.9 | 3.5±2.4 | 3.7±0.8 | 4.0±1.2 |
| FVC % pred | 89.2±11.4 | 84.8±29.4 | 82.5±18.8 | 85.5±24.4 | 78.2±16.2 | 91.3±23.9 | 83.1±38.0 | 93.9±20.4 |
| DLCO mL·min−1·mmHg−1 | 23.5±8.6 | 21.8±10.6 | 20.1±9.5 | 23.8±8.8 | 21.7±8.9 | 20.7±11.8 | 19.5±11.0 | 27.3±9.9 |
| DLCO % | 86.1±24.1 | 85.8±26.4 | 69.5±28.1 | 81.0±24.5 | 72.4±18.1 | 67.3±28.1 | 74.1±37.3 | 90.7±23.9 |
Data are presented as n, n (%), mean±SD or range. NA: not available; FEV1: forced expiratory volume in 1 s; FVC: forced vital capacity; DLCO: diffusing capacity of the lung for carbon monoxide.