Table 2.
Clinical characteristics based on genetic diagnosis
| Heterozygous LDLR | Heterozygous APOB | Compound/double/homozygous | No mutation | |
|---|---|---|---|---|
| Total (n) | 51 | 3 | 10 | 32 |
| Definite FH, n (%) | 26 (51%) | 1 (33%) | 7 (70%) | 4 (13%) |
| Probable FH, n (%) | 19 (37%) | 1 (33%) | 3 (30%) | 11 (34%) |
| Possible FH, n (%) | 6 (12%) | 1 (33%) | 0 | 17 (53%) |
| Male, n (%) | 23 (45%) | 1 (33%) | 5 (50%) | 14 (44%) |
| Age at diagnosis (years) | 38 ± 13 | 37 ± 10 | 38 ± 12 | 43 ± 13 |
| CVD, n (%) | 25 (49%) | 0 | 3 (30%) | 12 (38%) |
| TC (mmol/L) | 9.9 ± 1.6 | 8.8 ± 1.4 | 11.2 ± 3.3 | 8.8 ± 1.9 |
| TG (mmol/L) | 1.7 ± 1.2 | 0.8 ± 0.1 | 1.2 ± 0.6 | 1.7 ± 0.8 |
| LDL‐C (mmol/L) | 8.2 ± 1.6 | 7.3 ± 1.1 | 9.8 ± 3.4 | 6.5 ± 1.5 |
| HDL‐C (mmol/L) | 1.3 ± 0.3 | 1.7 ± 0.5 | 1.3 ± 0.4 | 1.5 ± 0.4 |
| Tendon xanthomas, n (%) | 12 (24%) | 0 | 2 (20%) | 2 (6.3%) |
| Arcus/Xanthelesma, n (%) | 4 (8%) | 1 (33%) | 1 (10%) | 1 (3%) |
Values are mean ± SD.