Table 1.
Demographic data, HHT manifestations, and gene mutations
| Characteristics | Overall | Alive | Dead |
|---|---|---|---|
| Count | 1286 | 1227 | 59 |
| Age at enrollment, mean ± SD | 46.0 ± 19.7 | 45.3 ± 19.5 | 60.8 ± 18.0 |
| Age category | |||
| < 20 | 171 (13%) | 168 (14%) | 3 (5%) |
| 20–39 | 263 (20%) | 258 (21%) | 5 (8%) |
| 40–59 | 511 (40%) | 500 (41%) | 11 (19%) |
| > 60 | 341 (27%) | 301 (25%) | 40 (68%) |
| Female | 749 (58%) | 718 (59%) | 31 (53%) |
| Smoker (past or current) | 428/1231 (35%) | 395/1178 (34%) | 33/53 (62%) |
| Brain VM | 278 (22%) | 268 (22%) | 10 (17%) |
| Pulmonary AVM | 615/1235 (50%) | 585/1178 (50%) | 30/57 (53%) |
| Symptomatic liver VM | 217/1217 (18%) | 196/1162 (17%) | 21/55 (38%) |
| GI bleeding | 216/1233 (18%) | 189/1177 (16%) | 27/56 (48%) |
| Anemia | 591/1234 (48%) | 550/1181 (47%) | 41/53 (77%) |
| Genotype | |||
| ACVRL1 | 357/886 (40%) | 343/854 (40%) | 14/32 (44%) |
| ENG | 496/886 (56%) | 482/854 (56%) | 14/32 (44%) |
| SMAD4 | 33/886 (4%) | 29 (3%) | 4/32 (13%) |
Values are n (%) or n/total (%), unless otherwise specified