Table 2.
Demographic and clinical characteristics of family members who consented and completed testing
| Proband Type | ||
|---|---|---|
| Characteristic | FHg+ (n = 111) | FHg− (n = 63) |
| Age at consent, y | 47.4 ± 22.0 | 57.4 ± 17.1 |
| Unknown | 22 | 0 |
| Range, y | 1-91 | 23-96 |
| Age <18 y | 13 (11.7%) | 0 (0%) |
| Female sex | 60 (54.1%) | 35 (55.6%) |
| Non-Hispanic White | 107 (96.4%) | 60 (95.2%) |
| LDL-Ca, mg/dL | – | 133.0 (106.5-157.0) |
| LDL-C ≥155 mg/dLa | – | 17 (27.0%) |
| Lipid lowering treatment at provided LDL-C | – | 14 (22.2%) |
| Pathogenic variant | ||
| None | 63 (56.8%) | – |
| APOB | 19 (17.1%) | – |
| LDLR | 29 (26.1%) | – |
| PCSK9 | 0 (0.0%) | – |
| Degree of relationship | ||
| First | 95 (85.6%) | 63 (100.0%) |
| Second | 11 (9.9%) | 0 (0.0%) |
| Third | 5 (4.5%) | 0 (0.0%) |
Values are n (%), mean ± SD, or median (IQR).
FHg+, familial hypercholesterolemia with a pathogenic variant; FHg−, familial hypercholesterolemia without a pathogenic variant; IQR, interquartile range; LDL-C, low-density lipoprotein cholesterol.
a
Values were corrected for lipid lowering treatment use at the time of measurement. LDL-C measurements were only requested from the family members of FHg− probands.