Table 1.
Baseline characteristics
| n (%) or mean (SD) | |
|---|---|
| Patients, n | 215 |
| Sex, n (%) | |
| Male | 79 (36.7) |
| Female | 136 (63.3) |
| Age at HHT diagnosis (years), mean ± SD | 42.2 ± 17.5 |
| Ethnicity | |
| Caucasian | 190 (88.4) |
| Hispanic | 2 (0.9) |
| Others | 9 (4.2) |
| No clinical data | 14 (6.5) |
| Underlying conditions, n (%) | |
| Current smoker | 26 (12.1) |
| Hypertension | 43 (20) |
| Diabetes Mellitus | 11 (5.1) |
| Dyslipidemia | 33 (15.3) |
| Venous Thromboembolism | 12 (5.5) |
| Atrial fibrillation | 8 (3.7) |
| HHT criteria, n (%) | |
| 4 HHT criteria | 99 (46) |
| 3 HHT criteria | 73 (34) |
| 2 or less HHT criteria | 32 (14.9) |
| No clinical data | 11 (5.1) |
| Family history | |
| Positive | 178 (82.8) |
| Negative | 11 (5.1) |
| No clinical data | 26 (12.1) |
| Symptoms at onset, n (%) | |
| Nosebleeds | 197 (91.6) |
| Central Nervous system event | 7 (3.2) |
| Cerebral abscess | 4 (1.9) |
| Stroke | 3 (1.4) |
| Cutaneous telangiectases | 1 (0.5) |
| Dyspnea | 1 (0.5) |
| Anemia | 1 (0.5) |
| No clinical data | 8 (3.7) |
| Muco-cutaneous telangiectasia, n (%) | 167 (77.7) |
| Baseline ESS | 3.65 (2.5) |
| Gene mutation, n (%) | |
| ENG | 36 (16.7) |
| ACVRL1 | 77 (35.8) |
| No clinical data | 102 (47.2) |
| Visceral involvement, n (%) | |
| Pulmonary AVM | 48 (22.3) |
| Cerebral AVM | 5 (2.3) |
| Hepatic involvement | 58 (27) |
| Gastrointestinal involvementa | 26 (12.1) |
HHT Hereditary hemorrhagic telangiectasia, SD Standard deviation, ESS Epistaxis Severity Score, AVM Arteriovenous malformation
aGastrointestinal involvement detected by fibrogastroscopy and / or colonoscopy