Table 1. Main features and complications of genotyped individuals with vEDS (Villefranche major diagnostic criteria).
| Status | |||||
|---|---|---|---|---|---|
| All patients | Index cases | Relatives | Index versus relatives | ||
| N=215 | N=146 | N=69 | P-value | Test | |
| Male gender | 83 (38%) | 58 (39%) | 25 (36%) | NS | Chi-square |
| Median age at genetic diagnosis | 34 (23–45) | 33 (24–43) | 38 (19–49) | NS | Wilcoxon |
| Median age at last follow-up visit | 37 (24–46) | 35 (26–45) | 39 (21–50) | NS | Wilcoxon |
| Characteristic facial appearance | 149 (77%) | 111 (82%) | 38 (66%) | * | Chi-square |
| Thin translucent skin | 172 (90%) | 121 (90%) | 51 (87%) | NS | Chi-square |
| Extensive bruising | 149 (76%) | 109 (78%) | 40 (68%) | NS | Chi-square |
| ≥1 Major complication | 168 (80%) | 131 (90%) | 37 (58%) | *** | Log-rank |
| Median age of the first one | 29 (22–39) | 28 (22–36) | 37 (26–48) | * | Wilcoxon |
| ≥1 Vascular complication | 150 (72%) | 115 (80%) | 35 (55%) | *** | Log-rank |
| Median age of the first one | 34 (25–42) | 32 (25–40) | 39 (30–50) | * | Wilcoxon |
| ≥1 Digestive complication | 63 (30%) | 52 (36%) | 11 (16%) | ** | Log-rank |
| Median age of the first one | 23 (19–34) | 23 (19–32) | 23 (17–37) | NS | Wilcoxon |
| ≥1 Obstetrical complicationa | 27 (22%) | 20 (25%) | 7 (17%) | NS | Log-rank |
| Median age of the first one | 29 (26–33) | 29 (25–33) | 26 (26–32) | NS | Wilcoxon |
| Median number of major criteria | 4 (3–5) | 4 (3–5) | 3 (3–4) | *** | Wilcoxon |
Quantitative variables are given in medians (interquartile range); percentages were calculated on the basis of available data for each item; P-values stratified for index status: *P<0.05; **P<0.01; ***P<0.001.
a
Females only.