Table 1.
Age, body mass index, physical signs, and concentrations of lipids and lipoproteins in familial hypercholesterolaemia probands and their affected and unaffected relatives. Values in parentheses are 95% copnfidence intervals unless stated otherwise
| Men
|
Women
|
||||||
|---|---|---|---|---|---|---|---|
| Probands (n=137) | Relatives
|
Probands (n=122) | Relatives
|
||||
| Affected (n=46) | Unaffected (n=37) | Affected (n=75) | Unaffected (n=42) | ||||
| Mean (SD) age | 45.0 (11.4) | 34.5 (14.8)*** | 26.7 (13.2)*** | 48.9 (12.6) | 38.2 (18.5)*** | 36.7 (16.2)*** | |
| Body mass index (kg/m2) | 25.2 (24.7 to 25.7) | 25.1 (23.9 to 26.3) | 24.8 (23.5 to 26.1) | 24.6 (24.0 to 25.3) | 23.6 (22.3 to 24.9) | 24.6 (22.9 to 26.3) | |
| Corneal arcus (%) | 49 (41 to 58) | 17 (8 to 31)*** | 3 (0 to 14)*** | 49 (40 to 58) | 17 (10 to 28)*** | 2 (0 to 13)*** | |
| Xanthelasmas (%) | 21 (14 to 28) | 2 (0 to 12)*** | 0 (0 to 9)*** | 25 (18 to 34) | 16 (9 to 26)*** | 0 (0 to 8)*** | |
| Tendon xanthomas (%) | 91 (83 to 99) | 26 (14 to 41)*** | 0 (0 to 9)*** | 87 (81 to 93) | 19 (11 to 29)*** | 0 (0 to 8)*** | |
| Serum cholesterol (mmol/l) | 8.5 (8.1 to 8.9) | 8.4 (7.9 to 8.9) | 5.6 (5.3 to 5.9)*** | 8.8 (8.3 to 9.3) | 8.1 (7.7 to 8.5) | 5.6 (5.3 to 5.9)*** | |
| Median (interquartile range) serum triglyceride (mmol/l) | 1.67 (1.11-2.30) | 1.75 (1.00-2.61) | 1.20 (0.87-1.67) | 1.09 (0.83-1.56) | 1.02 (0.76-1.52) | 1.02 (0.71-1.41) | |
| Serum low density lipoprotein cholesterol (mmol/l) | 6.0 (5.6 to 6.4) | 5.3 (4.9 to 5.8) | 3.1 (2.8 to 3.4)*** | 5.5 (5.1 to 5.9) | 6.0 (5.6 to 6.4) | 3.2 (3.0 to 3.5)*** | |
| Serum high density lipoprotein cholesterol (mmol/l) | 1.24 (1.13 to 1.35) | 1.23 (1.11 to 1.35) | 1.53 (1.36 to 1.70)** | 1.59 (1.50 to 1.68) | 1.45 (1.36 to 1.54) | 1.54 (1.38 to 1.70) | |
| Apolipoprotein B (g/l) | 1.44 (1.38 to 1.50) | 1.45 (1.32 to 1.58) | 0.94 (0.85 to 1.03)*** | 1.51 (1.42 to 1.60) | 1.48 (1.38 to 1.58) | 0.92 (0.85 to 0.99)*** | |
| Median (interquartile range) Lp(a) lipoprotein (g/l) | 0.29 (0.119-0.735) | 0.148 (0.064-0.562)* | 0.086 (0.038-0.353)** | 0.479 (0.196-0.821) | 0.202 (0.067-0.441)*** | 0.086 (0.053-0.386)** | |
*
P<0.05, **P<0.01, ***P<0.005 compared with probands.