Patients with Definite HHT No (%) | |
---|---|
No. of patients | 376 |
Mean age (SD) (yr) | 53.0 (43.4) |
Sex | |
Male | 151 (40.1) |
Female | 225 (59.8) |
Imaging | |
CTA/MRA | 140 (37.2) |
DSA | 46 (12.2) |
MRI | 365 (97.1) |
Curacao criteria | |
Epistaxis | 334 (88.8) |
Mucocutaneous telangiectasia | 327 (87.0) |
Visceral AVMs | 321 (85.4) |
Family history | 324 (86.2) |
Mutation analysis | |
ENG | 61 (49.6) |
ACVRL1 | 48 (39.0) |
SMAD4 | 14 (11.4) |
Chest CT | 311 (82.7) |
Pulmonary AVMs | 176 (56.6) |
Abd/pelv CT | 344 (91.5) |
Hepatic vascular malformations | 185 (53.8) |
Other GI vascular malformations | 8 (2.3) |
Neuroimaging findings | |
Cerebral AVM | 48 (12.8) |
DVA | 45 (12.0) |
Cavernoma/focal hemosiderin deposition | 13 (3.5) |
Capillary telangiectasia | 9 (2.4) |
Cerebral aneurysm | 8 (2.1) |
Note:—Abd indicates abdominal; pelv, pelvic; GI, gastrointestinal.