Table 1.
Clinical and molecular characteristics of the children with homozygous and compound heterozygous FH and their family members with FH
| Index Cases | Family Members With FH | |||
|---|---|---|---|---|
| Homozygous and Compound Heterozygous FH Children, N = 39 | Parents, N = 70 | Siblings, N = 10 | Second‐Degree Relatives, N = 41 | |
| Sex F/M, n | 18/21 | 34/36 | 4/6 | 19/22 |
| Age, y | 9.1 ± 4.8 | 37.5 ± 6.7 | 11.4 ± 7.7 | 41.5 ± 17.7 |
| Smoking | 0 (0) | 21 (30.0) | 1 (10) | 14 (34.1) |
| Obesity | 2 (5.1) | 3 (4.3) | 0 (0) | 6 (14.6) |
| HTN | 11 (23.4) | 23 (32.9) | 2 (20) | 18 (43.9) |
| DM | 0 (0) | 2 (2.9) | 0 (0) | 1 (2.4) |
| Tendon xanthomata | 39 (100) | 12 (17.1) | 4 (40) | 0 (0) |
| Arcus cornealis | 31 (79.5) | 4 (5.7) | 3 (30) | 3 (7.3) |
| Total cholesterol, mmol/L | 17.8 ± 4.3 | 7.6 ± 1.4 | 10.5 ± 5.3 | 7.7 ± 1.3 |
| LDL‐C, mmol/L | 15.1 ± 3.8 | 5.7 ± 1.3 | 8.5 ± 4.8 | 5.5 ± 1.4 |
| HDL‐C, mmol/L | 1.2 ± 0.8 | 1.4 ± 0.4 | 1.3 ± 0.3 | 1.5 ± 0.4 |
| TG, mmol/L | 1.3 ± 0.8 | 1.1 ± 0.4 | 1.0 ± 0.4 | 1.3 ± 0.6 |
| CAD | 21 (53.8) | 10 (12.7) | 3 (30) | 5 (12.2) |
| Lipid‐lowering therapy | 0 (0) | 0 (0) | 0 (0) | 2 (4.9) |
| Mutations | HoFH LDLR (n = 17) | HeFH LDLR (n = 68) | HeFH LDLR (n = 6) | HeFH LDLR (n = 41) |
| HzFH LDLR (n = 20) | HeFH APOB (n = 1) | HzFH LDLR (n = 4) | ||
| LDLR + APOB (n = 1) | HeFH PCSK9 (n = 1) | |||
| LDLR + PCSK9 (n = 1) | ||||
Abbreviations: APOB, apolipoprotein B; CAD, coronary artery disease; DM, diabetes mellitus; F, female; FH, familial hypercholesterolemia; HDL‐C, high‐density lipoprotein cholesterol; HeFH, heterozygous FH; HoFH, homozygous FH; HTN, hypertension; HzFH, compound heterozygous FH; LDL‐C, low‐density lipoprotein cholesterol; LDLR, low‐density lipoprotein receptor; M, male; PCSK9, proprotein convertase subtilisin/kexin type 9; SD, standard deviation; TG, triglycerides.
Data are expressed as n (%) or mean ± SD unless otherwise noted.