Table 1 Baseline characteristics
From: Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry
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) |