Table 1.
Patient Demographics and Baseline Clinical Characteristics
| Characteristic | Patients (N = 14) |
|---|---|
| Sex, n (%) | |
| Women | 11 (79) |
| Age at baseline, years | |
| Mean (SD) | 51 (17) |
| Range | 19–78 |
| Mean height, cm (SD) | |
| Men | 175 (5) |
| Women | 157 (9) |
| Mean weight, kg (SD) | |
| Men | 98 (18) |
| Women | 73 (22) |
| Mean BMI, kg/m2 (SD) | |
| Men | 32 (7) |
| Women | 30 (8) |
| Compound heterozygous mutations of ALPL, n (%) | 14 (100) |
| Mean ALP activity level at baseline, IU/L (SD) a | |
| Men | 14 (4) |
| Women | 18 (7) |
| Mean PLP activity at baseline, ng/mL (SD) b | 451 (390) |
| Mean PEA/creatinine ratio at baseline, mmol/mol creatinine c | 76 (59) |
| Menopause status (women only) | |
| Postmenopausal (n, %) d | 5 (45) |
| History of HPP‐related manifestations, n (%) e | |
| Dental | 14 (100) |
| Fractures | 14 (100) |
| Muscular | 14 (100) |
| Neurological | 6 (43) |
| Renal | 3 (21) |
| Rheumatic | 3 (21) |
| Skeletal f | 14 (100) |
| Pain | 14 (100) |
ALP = alkaline phosphatase; ALPL = alkaline phosphatase gene; HPP = hypophosphatasia; PEA = phosphoethanolamine; PLP = pyridoxal 5′‐phosphate.
a
Reference ranges for ALP: 53 to 128 IU/L (men), 42 to 98 IU/L (women).
b
Reference range for PLP: 5 to 30 ng/mL.
c
Reference range for PEA/creatinine ratio: 2.3 to 11.3 mmol/mol creatinine; data were unavailable for 3 patients.
d
Calculated as proportion of female patients; data were unavailable for one patient.
e
Calculated as proportion of patients for whom data were available.
f
Excluding fractures. Skeletal diagnoses included bowing of the long bones, congenital club foot, craniosynostosis, scoliosis, and kyphosis.