Table 2.
Clinical Characteristics of LRP5 HBM Cases, Non‐LRP5 HBM Cases, and Family Controls
| LRP5 HBM (n = 11) | Non‐LRP5 HBM (n = 347) | Controls (n = 200) | |
|---|---|---|---|
| Mean (SD) | Mean (SD) | Mean (SD) | |
| Age (years) | 49.5 (21.0) | 61.9 (13.5)* | 54.0 (16.1) |
| Height (cm) | 178.1 (8.6) | 166.3 (8.6)** | 171.1 (10.2)** |
| Weight (kg) | 93.7 (13.5) | 84.8 (17.5) | 82.4 (17.3)* |
| BMI (kg/m2) | 29.5 (2.8) | 30.7 (6.0) | 28.0 (4.9) |
| Shoe size a | 9.8 (2.3) | 7.0 (1.9)** | 7.9 (2.3)* |
| Total hip BMD Z‐score | 5.8 (2.7) | 3.0 (1.1)** | 0.5 (0.9)** |
| L1 BMD Z‐score | 6.4 (2.0) | 3.9 (1.5)** | 0.5 (1.2)** |
| TB BMD (mg/cm2) b | 1.76 (0.32) | 1.33 (0.10)** | 1.21 (0.12)** |
| TB lean mass (kg) b | 55.4 (11.7) | 46.7 (10.1)* | 51.3 (11.4) |
| TB fat mass (kg) b | 37.9 (6.5) | 35.4 (12.8) | 29.0 (11.3)* |
| TB android fat mass (kg) b | 3.72 (0.54) | 3.43 (1.41) | 2.90 (1.26) |
| TB gynoid Fat Mass (kg) b | 6.64 (2.31) | 5.64 (1.85) | 4.85 (1.82)* |
| Glucose c | 6.2 (3.8) | 6.2 (2.2) | 5.6 (1.3) |
| Adjusted calcium | 2.45 (0.07) | 2.41 (0.10) | 2.40 (0.08) |
| Phosphate | 1.12 (0.18) | 1.37 (0.86) | 1.17 (0.44) |
| Alkaline phosphatase | 74.9 (17.7) | 86.7 (33.6) | 85.2 (33.9) |
| P1NP (µg/L) | 44.1 (30.0) | 36.3 (19.9) | 41.1 (23.4) |
| CTX (µg/L) | 0.23 (0.18) | 0.19 (0.13) | 0.24 (0.17) |
| Osteocalcin (total) (µg/L) | 15.7 (8.0) | 15.6 (7.8) | 17.8 (7.8) |
| Tibial trabecular bone density (mg HA/cm3) d | 313.1 (59.8) | 215.1 (40.9)** | 185 (41.5)** |
| Tibial number of trabeculae (1/mm) d | 2.83 (0.24) | 2.31 (0.28)* | 2.25 (0.47)* |
| Tibial trabecular thickness (mm)d | 0.09 (0.02) | 0.08 (0.01) | 0.07 (0.01)* |
| Tibial cortical thickness (mm) d | 2.70 (1.07) | 1.27 (0.43)** | 1.18 (0.33)** |
| n (%) | n (%) | n (%) | |
| Female | 5 (45.5) | 269 (77.5)* | 93 (65.8) |
| Postmenopausal | 2 (40.0) | 216 (80.3)* | 48 (51.6) |
| Estrogen replacement use (ever) | 1 (20.0) | 127 (47.2) | 15 (16.1) |
HBM = high bone mass; TB = total body.
a
n = 468 for UK shoe size.
b
Total body DXA measures: n = 8 for LRP5 HBM, 199 for non‐LRP5 HBM, 126 for controls.
c
n = 247 for finger prick blood glucose.
d
HRpQCT measures: n = 4 for LRP5 HBM, 59 for non‐LRP5 HBM, 36 for controls. No LRP5 HBM cases reported malignancy; 2 LRP5 HBM cases, 7 non‐LRP5 HBM cases, and 2 controls had ever used oral bisphosphonates.
*p < 0.05, **p < 0.001 when compared with LRP5 HBM case.