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Table 3 HPP-related disease history

From: Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

  n/N (%)
Categorya: Symptom/sign Children (n = 121) Adults (n = 148)
Rheumatic 25/119 (21.0) 115/137 (83.8)
 Calcific periarthritis 0 9 (6.6)
 Chondrocalcinosis 0 6 (4.4)
 Fibromyalgia 2 (1.7) 13 (9.5)
 Painb 23 (19.3) 102 (74.5)
 Pseudogout 2 (1.7) 8 (5.8)
Skeletal 53/120 (44.2) 66/137 (48.2)
 Bone deformity 39 (32.5) 18 (13.1)
 Pseudofractures 1 (0.8) 9 (6.6)
 Recurrent and poorly healing fractures 5 (4.2) 50 (36.5)
 Rickets-like changes (by radiograph) 22 (18.3) 8 (5.8)
Orthopedic procedures and therapies 26/120 (21.7) 62/139 (44.6)
Muscular 23/119 (19.3) 51/137 (37.2)
 Abnormal gait 17/91c (18.7) 28/137 (20.4)
 Weakness 15/119 (12.6) 42/137 (30.7)
Premature loss of deciduous teeth 53/110d (48.2) 34/137 (24.8)
Renal/metabolic 28/119 (23.5) 22/137 (16.1)
 Hypercalcemia 15 (12.6) 6 (4.4)
 Hyperphosphatemia 7 (5.9) 6 (4.4)
 Kidney stones 2 (1.7) 7 (5.1)
 Nephrocalcinosis 11 (9.2) 5 (3.6)
Neurologic 32/120 (26.7) 16/137 (11.7)
 Craniosynostosis 12 (10.0) 4 (2.9)
 Developmental delay 16 (13.3) 3 (2.2)
 Increased intracranial pressure 2 (1.7) 1 (0.7)
 Seizures 11 (9.2) 12 (8.8)
Failure to thrive 32/120 (26.7) 7/137 (5.1)
Respiratory support 22/118 (18.6) 6/138 (4.3)
 Invasive ventilation 18 (15.3) 0
 CPAP/BiPAP 7 (5.9) 5 (3.6)
 Supplemental oxygen 11 (9.3) 2 (1.4)
  1. CPAP continuous positive airway pressure, BiPAP bilevel positive airway pressure, HPP hypophosphatasia
  2. aPatients may have had > 1 sign/symptom within each category
  3. bCombines generalized body pain, chronic bone pain, and chronic muscle pain
  4. cExcludes patients aged < 2 years at enrollment
  5. dExcludes patients aged < 6 months at enrollment