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Table 2 Clinical manifestations of participants stratified by ALPL genetic testing

From: Can we identify individuals with an ALPL variant in adults with persistent hypophosphatasaemia?

Clinical feature, n (%)+GT* (N = 39)–GT* (N = 45)Total (N = 84)p value
Musculoskeletal pain31 (79.5%)21 (46.7%)52 (61.9%)0.002**
Fractures
History of fractures17 (43.6%)15 (33.3%)32 (38.1%)0.334
 Multiple fractures2 (5.0%)0 (0.0%)2 (2.4%)0.129
 Peripheral fractures18 (45.0%)13 (28.9%)31 (36.5%)0.124
 Metatarsal fractures4 (10.0%)04 (4.7%)0.007**
 Family history of fractures6 (15.8%)9 (20.0%)15 (18.1%)0.619
Orthopedic surgery7 (18.4%)2 (4.4%)9 (10.8%)0.041**
History of premature teeth loss6 (15.4%)1 (2.2%)7 (8.3%)0.029**
Dental abnormalities12 (31.6%)6 (13.3%)18 (21.7%)0.045**
Family history of dental problems11 (35.5%)14 (34.1%)25 (34.7%)0.906
Muscle weakness6 (15.4%)3 (6.7%)9 (10.7%)0.198
Calcific periarthritis4 (10.3%)3 (6.7%)7 (8.3%)0.553
Chondrocalcinosis2 (5,1%)02 (2,4%)0.124
Median VAS* (IQR)3 (2–5)1 (0–5)2 (0–5)0.038**
Median HAQ-DI* (IQR)0 (0–0.3)0 (0–0.1)0 (0–0.3)0.872
  1. *+ GT positive genetic test, −GT negative genetic test, VAS Visual Analog Scale, HAQ-DI Health Assessment Questionnaire-Disability Index. **Significant statistical differences between groups