Table 2 Associations of clinical symptoms in individuals with genetically confirmed mutation in the ALPL-gene (ALPL-positive) and those without mutation (ALPL-negative) assessed by logistic regression with Firth correction
From: Identifying adult hypophosphatasia in the rheumatology unit
|  |  |  | Crude model (reference = non-HPP) |  | MI-adjusted model (reference = non-HPP) |  |
|---|---|---|---|---|---|---|
Symptoms | ALPL-positive (n = 13) N (%) | ALPL-negative (n = 16) N (%) | p-value | OR (95% CI) | p-value | OR (95% CI) |
Fracture | 10 (76.92%) | 7 (43.75%) | 0.079 | 3.80 (0.86–19.90) | 0.990 | 1.01 (0.14–6.80) |
Delayed fracture healing | 1 (11.11%) | 0 (0.00%) | NA | NA | 0.927 | 0.83 (0.01–163.64) |
Nephrocalcinosis | 0 (0.00%) | 1 (6.25%) | 0.577 | 0.41 (0.00–8.46) | 0.888 | 1.29 (0.01–35.06) |
Pneumonia | 6 (50.50%) | 3 (18.75%) | 0.090 | 3.86 (0.81–21.25) | 0.080 | 4.85 (0.83–34.82) |
Periarticular calcification | 5 (38.46%) | 1 (6.25%) | 0.040 | 6.69 (1.08–73.59) | 0.010 | 29.12 (2.02–1593.52) |
Arthralgia | 12 (92.31%) | 15 (93,75%) | 0.860 | 0.81 (0.06–10.87) | 0.835 | 1.33 (0.08–26.01) |
Muscle cramps | 6 (46.15%) | 8 (50.00%) | 0.843 | 0.87 (0.21–3.60) | 0.968 | 1.04 (0.18–6.60) |
Pain in general | 9 (69.23%) | 9 (60.00%) | 0.630 | 1.44 (0.32–6.83) | 0.988 | 0.99 (0.17–5.73) |
Epileptic seizures | 0 (0.00%) | 1 (6.25%) | 0.543 | 0.38 (0.00–7.81) | 0.969 | 0.93 (0.01–21.87) |
Dental problems | 5 (38.46%) | 1 (6.25%) | 0.040 | 6.69 (1.08–73.59) | 0.058 | 8.33 (0.93–143.40) |
Impairment in childhood | 3 (23.08%) | 1 (6.25%) | 0.221 | 3.44 (0.48–39.45) | 0.085 | 6.71 (0.78–94.71) |
Skoliosis | 4 (30.77%) | 2 (12.50%) | 0.247 | 2.75 (0.50–18.56) | 0.934 | 0.90 (0.06–9.31) |
Muscle weakness | 6 (46.15%) | 8 (50.00%) | 0.843 | 0.87 (0.21–3.60) | 0.878 | 1.14 (0.20–6.91) |
Prior orthopedic surgery | 4 (30.77%) | 6 (37.50%) | 0.724 | 0.77 (0.16–3.37) | 0.266 | 0.36 (0.05–2.14) |
Family history for HPP | 0 (0.00%) | 0 (0.00%) | NA | NA | NA | NA |
Ability to walk | 13 (100%) | 16 (100%) | NA | NA | NA | NA |