Table 1. Clinical characteristics of FH subjects according to the DLCN score.
| All FH (N = 472) | FH diagnosis category by DLCN score | ||||
|---|---|---|---|---|---|
| Possible FH (N = 210) | Probable FH (N = 73) | Definite FH (N = 189) | p-value | ||
| DLCN score | ≥ 3 | 3-5 | 6-8 | ＞8 | - |
| Age at FH registry entry (y) | 49±11 | 50±10 | 50±12 | 47±12 a | 0.028 |
| Age at FH diagnosis (y) | 46±12 | 49±10 | 48±13 | 43±12 a, b | ＜0.001 |
| Women, n (%) | 290 (61.4) | 127 (60.5) | 48 (65.8) | 115 (60.9) | 0.710 |
| Body mass index (kg/m2) | 25.0±4.2 | 25.2±4.3 | 24.2±4.2 | 25.3±4.1 | 0.162 |
| Smoking, n (%) | 26 (5.7) | 13 (6.7) | 2 (2.7) | 11 (5.8) | 0.661 |
| Hypertension, n (%) | 92 (19.5) | 42 (20.1) | 16 (21.9) | 34 (17.9) | 0.744 |
| Diabetes, n (%) | 45 (9.9) | 13 (6.7) | 7 (9.7) | 25 (13.2) | 0.101 |
| History of CAD, n (%) | 64 (13.9) | 22 (11.1) | 15 (20.6) | 27 (14.3) | 0.131 |
| History of premature CAD, n (%) | 55 (11.9) | 18 (9.0) | 13 (17.8) | 24 (12.8) | 0.125 |
| History of premature CVA or PAD, n (%) | 11 (2.3) | 5 (2.4) | 2 (2.7) | 4 (2.1) | 0.956 |
| History of premature CAD in a first-degree relative, n (%) | 88 (18.7) | 20 (9.6) | 22 (30.1) | 46 (24.3) | ＜0.001 |
| History of premature CVA or PAD in a first-degree relative, n (%) | 43 (9.2) | 14 (6.7) | 11 (15.3) | 18 (9.6) | 0.089 |
| History of LDL-C ＞190 mg/dL in a first-degree relative, n (%) | 90 (19.1) | 20 (9.6) | 19 (26.0) | 51 (26.9) | ＜0.001 |
| First-degree relative with xanthoma, n (%) | 28 (5.9) | 1 (0.5) | 3 (4.2) | 24 (12.7) | ＜0.001 |
| First-degree relative with arcus cornealis, n (%) | 37 (7.9) | 5 (2.4) | 4 (5.6) | 28 (14.9) | ＜0.001 |
| Presence of xanthoma, n (%) | 154 (32.7) | 0 (0) | 4 (5.6) | 150 (79.4) | ＜0.001 |
| Presence of arcus cornealis, n (%) | 156 (34.1) | 3 (1.5) | 52 (71.3) | 101 (53.7) | ＜0.001 |
| Highest total cholesterol (mg/dL) | 325±84 | 298±32 | 308±44 | 361±117 a, b | ＜0.001 |
| Highest LDL-C (mg/dL) | 240±75 | 213±25 | 220±43 | 279±101 a, b | ＜0.001 |
| LDL-C in subjects on LLM (mg/dL) | 150±75 | 137±50 | 124±59 | 169±90 a, b | ＜0.001 |
| On LLM, n (%)† | 266 (56.5) | 97 (46.4) | 43 (58.9) | 126 (66.7) | ＜0.001 |
| Treatment with statin alone, n (%) | 185 (39.6) | 81 (38.8) | 34 (47.9) | 70 (37.4) | 0.291 |
|
Treatment with combined statin＋bile acid sequestrant/ezetimibe/ PCSK9 inhibitor, n (%) |
78 (16.7) | 14 (6.7) | 9 (12.7) | 55 (29.4) | ＜0.001 |
Data are reported in mean±SD or count (percentage);
a statistically significant compared with the Possible FH group;
b statistically significant compared with the Probable FH group
†missing data = 1