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Skeletal

 
Clinical snapshot

Over time, systemic consequences can impact quality of life.1

86% (n=44) of pediatric patients reported pain.2,a
 
Pain impairs mobility, function, and activities of daily living.1-3
 

Skeletal manifestations can have devastating lifelong impacts for patients with hypophosphatasia (HPP).1,4-14

Patients with hypophosphatasia may experience4,6-15

Severe hypomineralization
Progressive skeletal demineralization
Hypophosphatasia-induced rickets
Bowing
Skeletal deformities
Bone pain
 
Osteomalacia
Frequent, nonhealing, nontraumatic, or recurrent fractures
Short stature
Multiple surgical interventions
 
 

Hypophosphatasia-induced rickets can have a lasting impact on mobility.4,7

Hypophosphatasia-induced rickets can lead to short stature, delayed walking, and waddling gait7,16,17
83% (5/6) of pediatric patients (5 to 15 years of age) had bowing of the long bones due to hypophosphatasia-induced rickets3,b
 

In patients with hypophosphatasia, the increasing number of recorded fractures over time suggests progressive morbidity as patients age.1,15,19

23% (7/30) of infants and young children experience fractures20,c
34% (11/32) of pediatric patients (5 to 15 years of age) experience fractures21,d
86% (108/125) of adult patients report fractures1,e
Adults with hypophosphatasia suffer from a large number of fractures (12.9 [mean] fractures [SD±19.0, range: 1-100])1,2,e

Devastating skeletal manifestations can progressively worsen across a lifetime in patients with hypophosphatasia.1,4,15,18

aThe HPP Impact Patient Survey (HIPS) was an Internet questionnaire that queried demographics, hypophosphatasia-related illness history, disease progression, and health-related quality of life. One hundred thirty-three patients participated.2

bData from a retrospective, noninterventional substudy of children (n=6) enrolled in a larger retrospective, multinational, noninterventional natural history study of childhood hypophosphatasia (N=32).3

cData from a noninterventional, retrospective chart review study designed to understand the natural history of 48 patients with severe perinatal- and infantile-onset hypophosphatasia ≤5 years of age.20

dData from a retrospective, multinational, noninterventional natural history study of childhood hypophosphatasia (N=32).21

eHIPS/HPP Outcomes Survey Telephone (HIPS/HOST) combined data from an Internet questionnaire and telephone survey that queried demographics, hypophosphatasia-related illness history, disease progression, and health-related quality of life. One hundred eighty-four patients participated (59 children, 125 adults).1,2

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