Table 1.
Symptoms at presentation.
| Index patients | Nonindex patients | ||||||
|---|---|---|---|---|---|---|---|
| Totala | Total with featureb | Totala | Total with featureb | ||||
| n | n (% of total) | Median age (years)c (IQR) | n | n (% of total) | Median age (years)c (IQR) | ||
| Intestinal | Blood in stool | 126 | 54 (42.9%) | 11.5 (15.0) | 95 | 8 (8.4%) | 17.0 (21.5) |
| SMAD4 | 71 | 29 (40.8%) | 11.0 (13.0) | 56 | 8 (14.3%) | 17.0 (21.5) | |
| BMPR1A | 55 | 25 (45.5%) | 12.0 (17.3) | 39 | 0 | - | |
| Anemia | 126 | 55 (46.7%) | 17.5 (26.0) | 95 | 6 (6.3%) | 35.5 (11.0) | |
| SMAD4 | 71 | 41 (57.7%) | 18.0 (27.5) | 56 | 6 (10.7%) | 35.5 (11.0) | |
| BMPR1A | 55 | 14 (25.5%) | 15.0 (30.8) | 39 | 0 | - | |
| Extraintestinal, vascular | Epistaxis | 126 | 17 (13.5%) | 11.0 (31.0) | 95 | 8 (8.4%) | 23.0 (33.8) |
| SMAD4 | 71 | 17 (23.9%) | 11.0 (31.0) | 56 | 8 (14.3%) | 23.0 (33.8) | |
| BMPR1A | 55 | 0 | 39 | 0 | - | ||
| Telangiectasia | 126 | 15 (11.9%) | 38.0 (18.5) | 95 | 2 (2.1%) | 32.5 (33.0) | |
| SMAD4 | 71 | 15 (21.1%) | 38.0 (18.5) | 56 | 2 (3.6%) | 32.5 (33.0) | |
| BMPR1A | 55 | 0 | 39 | 0 | - | ||
| AVM | 126 | 10 (7.9%) | 46.5 (12.0) | 95 | 3 (3.2%) | 31.0 (14.0) | |
| SMAD4 | 71 | 10 (14.1%) | 46.5 (12.0) | 56 | 3 (5.4%) | 31.0 (14.0) | |
| BMPR1A | 55 | 0 | 39 | 0 | - | ||
| Cardiac | Congenital heart defects | 126 | 8 (6.3%) | 6.0 (12.0) | 95 | 3 (3.2%) | 1.0 (0.0) |
| SMAD4 | 71 | 3 (4.2%) | 23 (0.0) | 56 | 0 | - | |
| BMPR1A | 55 | 5 (9.1%) | 4.5 (14.0) | 39 | 3 (7.7%) | 1.0 (0.0) | |
AVM arteriovenous malformation, IQR interquartile range.
aTotal number of patients.
bTotal number of index or nonindex patients who presented with the respective symptom.
cDue to missing age at diagnosis the calculation of the median age is often based on fewer than the total number of patients with the respective feature.