Table 1.
Demographics, clinical characteristics, and reasons for diagnosis in patients with vEDS
| N (%), Mean (range) | All (N=67) | MIN (N=58) | HI (N=9) | P* |
|---|---|---|---|---|
| Male | 30 (44.1) | 23 (39.7) | 7 (77.8) | .032 |
| Caucasian | 60 (89.6) | 51 (87.9) | 9 (100.0) | |
| African American and Hispanic | 7 (10.4) | 7 (12.1) | 0 | |
| Age | 40.9 (8–70.2) | 39.9 (8–70.2) | 47.5 (26–61.6) | .116 |
| Age at diagnosis | 33 (0.3–63) | 31.5 (0.3–63) | 42.6 (26–58) | .016 |
| Age at first arterial pathology diagnosis | 34.2 (8–62) | 33.0 (8–62) | 41.6 (26–58) | .030 |
| Major and Minor criteria | ||||
| Family history of vEDS | 43 (64.2) | 35 (60.3) | 8 (88.9) | .097 |
| Easy Bruising | 51 (76.1) | 46 (79.3) | 5 (55.6) | .120 |
| Colon Perforation | 8 (11.9) | 8 (13.8) | 1 (1.7) | .235 |
| Gravid Uterine Rupture (Females) | 1 (2.7) | 1 | 0 | |
| Thin translucent skin | 38 (56.7) | 36 (62.1) | 7 (12.1) | .025 |
| Skin hyperextensibilty | 7 (10.4) | 7 (12.1) | 0 | .271 |
| Characteristic facial appearance | 41 (61.2) | 38 (65.5) | 3 (33.3) | .065 |
| Carotid-cavernous sinus fistula | 4 (6) | 4 (6.9) | 0 | .417 |
| Small joint hypermobility | 29 (43.3) | 28 (48.3) | 1 (11.1) | .036 |
| Tendon or muscle rupture | 6 (9) | 6 (10.3) | 0 | .312 |
| Early-onset varicose veins | 9 (13.4) | 9 (15.5) | 0 | .204 |
| Pneumothorax/Hemothorax | 15 (22.4) | 14 (24.1) | 1 (11.1) | .383 |
| Clubfoot | 6 (9) | 6 (10.3) | 0 | .312 |
| Other comorbidities | ||||
| Hypertension | 15 (22.4) | 11 (19) | 4 (44.4) | .088 |
| Pyloric Stenosis | 3 (4.5) | 3 (5.2) | 0 | .485 |
| Shoulder Surgery or dislocation | 4 (6) | 4 (6.9) | 0 | .417 |
| Migraine Headaches | 6 (9) | 6 (10.3) | 0 | |
| Reason for diagnosis | ||||
| Personal History of Vascular Pathology | 29 (43.3) | 22 (37.9) | 7 (77.8) | .025 |
| Family History | 21 (31.1) | 19 (32.8) | 2 (22.2) | |
| Personal History of Colon Perforation | 5 (7.5) | 5 (8.6) | 0 | |
| History of excessive bruising | 4 (6) | 4 (6.9) | 0 | |
| Diagnosed at autopsy | 2 (3) | 2 (3.4) | 0 | |
| History of excessive scarring | 1 (1.5) | 1 (1.7) | 0 | |
| History of ruptured spleen | 1 (1.5) | 1 (1.7) | 0 | |
| Strong phenotype | 1 (1.5) | 1 (1.7) | 0 | |
| Unknown reason | 2 (3) | 2 (3.4) | 0 | |
MIN: mutations that lead to minimal normal type III collagen production. HI: mutations that lead to 50% normal type III collagen production.
*
P value calculated using the Pearson Chi-square test for categorical data and independent samples t-test with equal variances assumed for the continuous variables.