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Table 3 Proportion of patients with manifestations/events considered to contribute to the clinical burden of HPP

From: Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

  Overall
n (%)
n = 265
In utero
n (%)
n = 30
Infancy
n (%)
n = 102
Childhood
n (%)
n = 78
Adolescence
n (%)
n = 9
Adulthood
n (%)
n = 46
Patients with at least one manifestation/event 248 (94) 25 (83) 96 (94) 78 (100) 9 (100) 40 (87)
Manifestation/event
Premature loss of teeth 142 (53.5) 3 (10.0) 63 (61.8) 58 (74.4) 3 (33.3) 14 (30.4)
One or more fractures 95 (35.8) 12 (40.0) 19 (18.8) 27 (34.6) 3 (33.3) 34 (73.9)
Multiple fracturesa 60 (22.6) 2 (6.7) 13 (12.7) 19 (24.4) 2 (22.2) 24 (52.2)
Pain 89 (33.6) 1 (3.3) 25 (24.5) 32 (41.0) 6 (66.7) 25 (54.3)
Gross motor/ambulation difficulties 82 (30.9) 7 (23.3) 41 (40.2) 18 (23.1) 1 (11.0) 15 (32.6)
Cranial abnormalities 66 (24.9) 12 (40.0) 44 (43.1) 10 (12.8) 0 (0.0) 0 (0.0)
Surgery 64 (24.2) 4 (13.3) 30 (29.4) 8 (10.1) 3 (33.3) 17 (37.0)
Dental otherb 37 (14.0) 0 (0.0) 23 (22.5) 11 (14.1) 0 (0.0) 3 (6.5)
Hospitalizationsc 33 (12.5) 1 (3.3) 18 (17.6) 6 (7.7) 2 (22.2) 6 (13.0)
Respiratory symptomsc 19 (7.2) 5 (16.7) 14 (13.7) 0 (0.0) 0 (0.0) 0 (0.0)
Nephrocalcinosis 11 (4.2) 2 (6.7) 8 (7.8) 1 (1.3) 0 (0.0) 0 (0.0)
Seizures 7 (2.6) 3 (10.0) 3 (2.9) 0 (0.0) 0 (0.0) 1 (2.2)
Renal insufficiency 4 (1.5) 0 (0.0) 1 (1.0) 3 (3.8) 0 (0.0) 0 (0.0)
Psychological 3 (1.1) 0 (0.0) 0 (0.0) 1 (1.3) 0 (0.0) 2 (4.3)
  1. HPP-related manifestations and events considered to contribute to the clinical burden of HPP were identified by four clinical experts who had experience in treating patients with HPP. Bold italicized numbers indicate the three most frequent symptoms for each age group. Only patients who had been followed longitudinally for at least 1 year were included in this analysis
  2. aMultiple fractures defined as three or more. bDental other includes delayed eruption of teeth, abnormality of the dentition, severe periodontitis, and atrophy of alveolar ridges. cOnly patients who survived at least 1 year were included in this analysis
  3. HPP hypophosphatasia