Table 1.
Demographic characteristics of the included patients. ACVRL1, activin receptor-like kinase 1 (HHT type 2); ENG, endoglin (HHT type 1); HHT, Hereditary Hemorrhagic Telangiectasia; SD, standard deviation; SMAD4, SMAD family member 4 (juvenile polyposis/HHT overlap syndrome).
| HHT Group (n = 717) | Control Group (n = 471) | p-Value | |
|---|---|---|---|
| Gender (%) | 0.28 | ||
| Female | 384 (54) | 268 (57) | |
| Male | 333 (46) | 203 (43) | |
| Genetic mutation (%) | - | - | |
| ENG (HHT type 1) | 319 (45) | ||
| ACVRL1 (HHT type 2) | 325 (45) | ||
| SMAD4 | 29 (4) | ||
| Mutation unknown | 44 (6) | ||
| Mean age at presentation, years (SD) | 40.8 (19.4) | 40.6 (17.4) | 0.86 |
| ENG (n = 319) | 35.7 (19.9) | - | - |
| ACVRL1 (n = 325) | 44.9 (17.8) | - | - |
| SMAD4 (n = 29) | 31.4 (17.2) | - | - |
| Mutation unknown (n = 44) | 54.1 (13.9) | - | - |
| Mean birth year | 1969 | 1969 | - |