Table 2.
Prevalence of Different FH Genotypes
| Index Cases (n = 124) |
Index Cases + Relatives (n = 169) |
|||||
|---|---|---|---|---|---|---|
| n (%) | LDL-C (mmol/l) | Age (yrs) | n (%) | LDL-C (mmol/l) | Age (yrs) | |
| No variant | 39 (31.5) | 5.61 ± 2.39 | 48 ± 12 | 49 (29) | 5.65 ± 2.27 | 46 ± 14 |
| LDLR | ||||||
| Missense | 34 (27.4) | 5.45 ± 2.43 | 45 ± 14 | 54 (32.0) | 5.71 ± 2.07 | 43 ± 17 |
| Nonsense | 10 (8.1) | 5.84 ± 2.05 | 52 ± 12 | 13 (7.7) | 6.38 ± 2.12 | 52 ± 11 |
| Splicing | 2 (1.6) | 5.68 ± 0.37 | 48 ± 11 | 2 (1.2) | 5.68 ± 0.37 | 48 ± 11 |
| Frameshift | 9 (7.3) | 5.58 ± 1.25 | 38 ± 8 | 17 (10.1) | 5.37 ± 1.21 | 41 ± 17 |
| APOB | 1 (0.8) | 3.71 | 46 | 1 (0.6) | 3.71 | 46 |
| Two alleles | ||||||
| Compound HeFH | 12 (9.7) | 5.83 ± 2.02 | 39 ± 16 | 13 (7.7) | 6.06 ± 2.10 | 40 ± 16 |
| Double HeFH | 5 (4.0)∗ | 6.22 ± 2.15 | 44 ± 12 | 7 (4.1) | 6.35 ± 1.79 | 41 ± 13 |
| HoFH | 4 (3.2) | 10.95 ± 2.15 | 31 ± 8 | 4 (2.4) | 10.95 ± 2.15 | 31 ± 8 |
| CNV | 5 (4.0) | 6.52 ± 3.26 | 45 ± 20 | 5 (3.0) | 6.52 ± 3.26 | 45 ± 20 |
| Minor genes | 3 (2.4) | 4.90 ± 2.00 | 32 ± 21 | 4 (2.4) | 5.38 ± 1.89 | 41 ± 25 |
Values are mean ± SD unless otherwise indicated.
APOB = apolipoprotein B; CNV = copy number variants; HeFH = heterozygous familial hypercholesterolemia; HoFH = homozygous familial hypercholesterolemia; LDLR = low-density lipoprotein receptor; other abbreviations as in Table 1.
∗
4 patients with LDLR + PCSK9, 1 patient with LDLR + APOB.