Table 1.
Demographic and clinical characteristics of pediatric HHT patients.
| Characteristic | All Patients n = 205 |
ENG (101/171, 59%) |
ACVRL1 (59/171, 35%) |
SMAD4 (11/171, 6%) |
p-Value |
|---|---|---|---|---|---|
| Female Sex (%) | 97 (47%) | 51/101 (50.5%) | 28/59 (47.5%) | 2/11 (18.2%) | 0.125 |
| Mean Age (yrs) (±Standard Deviation (years)) | 9.9 (±6.5) | 9.4 (±5.4) | 9.2 (±5.5) | 11.27 (±4.9) | 0.430 |
| Age range | 1 month–18 years | 1 month–18 years | 1 month–18 years | 4–17 years | – |
| Epistaxis | 172/205 (83.9%) | 86/101 (85.1%) | 51/59 (86.4%) | 10/11 (90.9%) | 0.865 |
| Telangiectasia | 104/205(50.7%) | 47/101 (46.5%) | 28/59 (47.5%) | 4/11 (36.4%) | 0.790 |
| Pulmonary AVM | 62/205 (30.2%) | 44/101 (43.6%) | 4/59 (6.8%) | 1/11 (9.1%) | <0.001 |
| Brain VM | 70/205 (34.1%) | 45/101 (44.6%) | 10/59 (17.0%) | 0/11 (0%) | <0.001 |
| GI bleeding | 9/205 (4.4%) | 2/101 (1.8%) | 1/59 (1.7%) | 5/11 (45.5%) | <0.001 |
| Anemia | 28/205 (13.7%) | 13/101 (12.9%) | 10/59 (17.0%) | 2/11 (18.2%) | 0.735 |
| Liver VM | 7/205 (3.4%) | 1/101 (0.9%) | 4/59 (6.8%) | 0/11 (0%) | 0.093 |
| Any VM | 103/205 (50.2%) | 65/101 (64.4%) | 17/59 (28.8%) | 1/11 (0.9%) | <0.001 |
| Combined phenotype 1 | 33/205 (16.1%) | 24/101 (23.8%) | 2/59 (3.4%) | 0/10 (0%) | 0.001 |
1 Combined phenotype: combined presence of both pulmonary AVM(s) and brain VM(s). HHT: hereditary hemorrhagic Telangiectasia; VM: vascular malformation; AVM: Arteriovenous malformation; GI: gastrointestinal.