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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 pain

31 (79.5%)

21 (46.7%)

52 (61.9%)

0.002**

Fractures

History of fractures

17 (43.6%)

15 (33.3%)

32 (38.1%)

0.334

 Multiple fractures

2 (5.0%)

0 (0.0%)

2 (2.4%)

0.129

 Peripheral fractures

18 (45.0%)

13 (28.9%)

31 (36.5%)

0.124

 Metatarsal fractures

4 (10.0%)

0

4 (4.7%)

0.007**

 Family history of fractures

6 (15.8%)

9 (20.0%)

15 (18.1%)

0.619

Orthopedic surgery

7 (18.4%)

2 (4.4%)

9 (10.8%)

0.041**

History of premature teeth loss

6 (15.4%)

1 (2.2%)

7 (8.3%)

0.029**

Dental abnormalities

12 (31.6%)

6 (13.3%)

18 (21.7%)

0.045**

Family history of dental problems

11 (35.5%)

14 (34.1%)

25 (34.7%)

0.906

Muscle weakness

6 (15.4%)

3 (6.7%)

9 (10.7%)

0.198

Calcific periarthritis

4 (10.3%)

3 (6.7%)

7 (8.3%)

0.553

Chondrocalcinosis

2 (5,1%)

0

2 (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