Characteristics of FDRs of probands with FCCM and prevalence of FDRs of FCCM
| Characteristic | CCMs patients screened in FDRs (n=31) | Non-CCMs patients screened in FDRs (n=54) | Relatives’ relationship to proband (n=85) | CCMs prevalence in FDRs (% (95% CI)) | |
| Probands with ≥1 enrolled FDRs, No. (%) | 31 | 54 | 85 | 36.5 (26.2 to 46.7) | |
| 100% Living FDRs enrolled per proband | 14 | 22 | 36 | 38.9 (23.0 to 54.8) | |
| Number of people who self-reported* | 35 | 55 | 90 | 38.9 (28.8 to 49.0) | |
| Relatives’ relationship, No. (%) | Parents | 12 (38.7) | 17 (31.5) | 29 (34.1) | 41.4 (23.5 to 59.3) |
| Sibling | 8 (25.8) | 19 (35.2) | 27 (31.8) | 29.6 (12.4 to 46.9) | |
| Offspring | 11 (35.5) | 18 (33.3) | 29 (34.1) | 37.9 (20.3 to 55.6) | |
| Sex, No. (%) | Male | 14 (45.2) | 26 (48.1) | 40 (47.1) | 35.0 (20.2 to 49.8) |
| Female | 17 (54.8) | 28 (51.9) | 45 (52.9) | 37.8 (23.6 to 51.9) | |
| Adult, No. (%) | No | 7 (22.6) | 13 (24.1) | 20 (23.5) | 35.0 (14.1 to 55.9) |
| Yes | 24 (77.4) | 41 (75.9) | 65 (76.5) | 36.9 (25.2 to 48.7) | |
| Genetic variation (%) | Unknown | 8 (25.8) | 15 (27.8) | 23 (27.1) | 34.8 (15.3 to 54.2) |
| CCM1 | 11 (35.5) | 25 (46.3) | 36 (42.4) | 30.6 (15.5 to 45.6) | |
| CCM2 | 11 (35.5) | 8 (14.8) | 19 (22.4) | 57.9 (35.7 to 80.1) | |
| CCM3 | 1 (3.2) | 6 (11.1) | 7 (8.2) | 14.3 (–11.6 to 40.2) | |
*Five FDRs had received brain MRI examination before enrolment. Out of the five, four were diagnosed with CCMs and one was diagnosed without CCMs. But they did not participant in our study, the results were reported by probands or other FDRs in the families. Unknown, unknown mutation.
CCMs, cerebral cavernous vascular malformations; FDRs, first-degree relatives.