Summary of 141 patients
| Demographics | Summary |
|---|---|
| Sex | |
| Male | 36.9% |
| Female | 63.1% |
| Age (mean) (yr) | 45.3 |
| MCD | |
| Yes | 5 |
| No | 136 |
| HHT mutation | |
| Endoglin | 35.4% |
| ALK 1a | 27.7% |
| SMAD4a | 2.8% |
| RASA1 | 0.7% |
| Negative × 5 | 15.6% |
| Unknown/not tested | 17.7% |
| AVMs | |
| Brain AVM | 12.0% |
| Brain AVM (possible) | 2.8% |
| Pulmonary AVM (macroscopic)b | 43.3% |
| Pulmonary AVM (microscopic)b | 32.6% |
| Spinal AVM | 0.7% |
| Brain vascular malformations | |
| Developmental venous anomaly | 14.9% |
| Capillary vascular malformation, definite | 1.4% |
| Capillary vascular malformation, possible | 4.3% |
| Curacao category | |
| Definite HHT | 79.4% |
| Possible or suspected HHT | 12.1% |
| Probable | 4.3% |
| Unlikely | 4.3% |
aALK1 includes 2 variants of unknown significance; SMAD4 includes 1 variant of unknown significance.
bPulmonary AVMs were defined as macroscopic if they were definitely visible on a CT scan and microscopic if contrast echocardiography showed a Grade 1 or greater delayed shunt and the CT findings were negative.