Lifelong impact of hypophosphatasia on children and adolescents

Manifestations resulting from hypophosphatasia in children and adolescents can include

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Skeletal
Muscular/Rheumatologic
Growth and development
Physical function
Dental
Neurologic
Renal

Craniosynostosis⁴
Rickets^5,6
Bowing of the long bones^1,7
Irregular mineralization/calcification⁷
Widened metaphyses^1,8
Valgus deformities⁶
Fractures^1,9
Bone pain¹

Muscle and joint pain^1,10
Muscle weakness^1,11

Delayed or missed motor milestones^1,11
Short stature^1,9
Low body weight⁹

Unusual or waddling gait^1,11
Impaired mobility (including use of assistive devices)^1,9
Difficulty with activities of daily living⁹

Premature loss of teeth^1,12

Neurologic complications of craniosynostosis
- Increased intracranial pressure^1,4
- Seizures¹³
- Optic nerve damage⁴
- Papilledema^1,4

Hypercalcemia⁹
Nephrocalcinosis¹⁴

Skeletal manifestations of hypophosphatasia can result in a high burden of disease in children and adolescents.¹

Defective bone mineralization in hypophosphatasia can lead to fractures and skeletal abnormalities.^1,6

7.5 months of age^15,a

8.5 years of age^6,a

9 years of age^16,a

Radiograph of a femur from a 7.5-month-old child with hypophospatasia showing femoral bowing

Radiograph of the legs of an 8.5-year-old child with hypophosphatasia showing tibial valgus deformity

$Hip radiograph from a 9-year-old child with hypophosphatasia showing a fracture of the right femoral neck$

Femoral bowing

Tibial valgus deformity

Fracture of the right femoral neck

Progressive skeletal demineralization can occur over time.¹⁷

7 weeks of age¹⁵

Same patient at 33 months of age¹⁵

Long bones

Long bones barely visible

Hypophosphatasia-related skeletal abnormalities can lead to pain, short stature, delayed walking, and waddling gait.^1,11

Children with hypophosphatasia are at high risk of serious systemic manifestations.^1,10,18

Infographic showing the range of devastating consequences that children with hypophosphatasia experience. 31% of patients experienced craniosynostosis, 52% experienced nephrocalcinosis, 89% experienced delayed motor development and 42% of patients with delayed motor development experienced delayed walking.

Hypophosphatasia causes pain and muscle weakness in children and adolescents.^1,10,11

A majority of children and adolescents with hypophosphatasia reported experiencing pain and muscle weakness.⁹

Graph showing that the majority of children and adolescents with hypophosphatasia reported experiencing pain and muscle weakness

Mobility in children with hypophosphatasia is severely impaired compared with healthy peers.^9,20

Children with hypophosphatasia had impaired mobility vs healthy children, as measured by the 6-minute walk test (6MWT).^9,20

Infographic showing that, in the 6-minute walk test, healthy children walked 595.7 meters versus children with hypophosphatasia, who walked 345.0 meters

The 6MWT is a clinically relevant measure of disability for patients with hypophosphatasia.⁹

The 6MWT assesses ambulatory function, which encompasses lower extremity strength, endurance, and cardiorespiratory status²¹

Mobility impairments may affect the ability of children and adolescents to participate in normal childhood activities.⁹

Hypophosphatasia causes functional impairment in children and adolescents.^6,9

Children and adolescents with hypophosphatasia reported difficulty with a variety of normal childhood activities.^9,h

Graph showing that children and adolescents with hypophosphatasia reported difficulty with a variety of normal childhood activities, including walking (73%), climbing/descending stairs (73%), standing from a sitting position (58%) and picking up objects from the floor (33%)

Hypophosphatasia has devastating consequences on growth, development, functionality, and daily life.^1,6,9,11,22

Low alkaline phosphatase (ALP) activity in children and adolescents with hypophosphatasia can lead to ongoing functional impairment that can dramatically impact quality of life.^1,6,9,11,22

Infographic detailing the poor quality of life in children and adolescents with hypophosphatasia, including missed milestones and developmental delays, growth delays and restrictions, limited functionality and mobility, significant disability and difficulty with activities of daily living, and severe, chronic pain

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Learn about disease progression in an adolescent with hypophosphatasia.

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How might hypophosphatasia impact adults in your practice?

^aRadiographs are from different patients with hypophosphatasia.

^bData from a noninterventional, retrospective chart review study designed to understand the natural history of 48 patients ≤5 years of age with severe perinatal- and infantile-onset HPP. Patients included in the study were those diagnosed with HPP based on at least one of the following: serum biomarker levels (below-normal ALP and above-normal PLP or PEA), below-normal ALP and radiographic abnormalities, or genetic analysis of the ALPL gene. Additionally, onset of HPP must have occurred prior to 6 months of age based on signs that included at least one of the following: respiratory compromise, rachitic chest deformity, and/or vitamin B₆–responsive seizures.¹⁹

^cData from a retrospective, multinational, noninterventional natural history study of childhood HPP in patients 5 to 15 years of age (N=32).²⁵

^dHIPS/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. Fifty-nine children participated.⁹

^eHIPS was an Internet questionnaire that queried demographics, hypophosphatasia-related illness history, disease progression, and health-related quality of life. Forty-four children and adolescents participated.⁹

^fData from a subset of 9-year-old boys (n=60; mean age, 9.5 years) from a larger study (N=442) intended to generate normative data for the 6MWT.⁹

^gBaseline 6MWT data from a clinical trial in children 5 to 12 years of age with HPP (N=13; mean age, 8.8 years).²⁰

^hData from HOST, a telephone survey that queried demographics, HPP-related illness history, disease progression, and health-related quality of life. Fifteen children participated.⁹

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Hypophosphatasia (HPP) in children and adolescents can have a lifelong impact.^1-3

Manifestations resulting from hypophosphatasia in children and adolescents can include

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Skeletal manifestations of hypophosphatasia can result in a high burden of disease in children and adolescents.¹

Defective bone mineralization in hypophosphatasia can lead to fractures and skeletal abnormalities.^1,6

7.5 months of age^15,a

8.5 years of age^6,a

9 years of age^16,a

Femoral bowing

Tibial valgus deformity

Fracture of the right femoral neck

Progressive skeletal demineralization can occur over time.¹⁷

7 weeks of age¹⁵

Same patient at 33 months of age¹⁵

Long bones

Long bones barely visible

Children with hypophosphatasia are at high risk of serious systemic manifestations.^1,10,18

Hypophosphatasia causes pain and muscle weakness in children and adolescents.^1,10,11

A majority of children and adolescents with hypophosphatasia reported experiencing pain and muscle weakness.⁹

Mobility in children with hypophosphatasia is severely impaired compared with healthy peers.^9,20

Hypophosphatasia causes functional impairment in children and adolescents.^6,9

Children and adolescents with hypophosphatasia reported difficulty with a variety of normal childhood activities.^9,h

Hypophosphatasia has devastating consequences on growth, development, functionality, and daily life.^1,6,9,11,22

Low alkaline phosphatase (ALP) activity in children and adolescents with hypophosphatasia can lead to ongoing functional impairment that can dramatically impact quality of life.^1,6,9,11,22

View patient case study

Find out more

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information about Hypophosphatasia.

Hypophosphatasia (HPP) in children and adolescents can have a lifelong impact.1-3

Manifestations resulting from hypophosphatasia in children and adolescents can include

Choose an icon to learn more

Skeletal manifestations of hypophosphatasia can result in a high burden of disease in children and adolescents.1

Defective bone mineralization in hypophosphatasia can lead to fractures and skeletal abnormalities.1,6

7.5 months of age15,a

8.5 years of age6,a

9 years of age16,a

Femoral bowing

Tibial valgus deformity

Fracture of the right femoral neck

Progressive skeletal demineralization can occur over time.17

7 weeks of age15

Same patient at 33 months of age15

Long bones

Long bones barely visible

Children with hypophosphatasia are at high risk of serious systemic manifestations.1,10,18

Hypophosphatasia causes pain and muscle weakness in children and adolescents.1,10,11

A majority of children and adolescents with hypophosphatasia reported experiencing pain and muscle weakness.9

Mobility in children with hypophosphatasia is severely impaired compared with healthy peers.9,20

Hypophosphatasia causes functional impairment in children and adolescents.6,9

Children and adolescents with hypophosphatasia reported difficulty with a variety of normal childhood activities.9,h

Hypophosphatasia has devastating consequences on growth, development, functionality, and daily life.1,6,9,11,22

Low alkaline phosphatase (ALP) activity in children and adolescents with hypophosphatasia can lead to ongoing functional impairment that can dramatically impact quality of life.1,6,9,11,22

View patient case study

Find out more

Keep Me UpdatedI want to know the latest news and information about Hypophosphatasia.

Hypophosphatasia (HPP) in children and adolescents can have a lifelong impact.^1-3

Skeletal manifestations of hypophosphatasia can result in a high burden of disease in children and adolescents.¹

Defective bone mineralization in hypophosphatasia can lead to fractures and skeletal abnormalities.^1,6

7.5 months of age^15,a

8.5 years of age^6,a

9 years of age^16,a

Progressive skeletal demineralization can occur over time.¹⁷

7 weeks of age¹⁵

Same patient at 33 months of age¹⁵

Children with hypophosphatasia are at high risk of serious systemic manifestations.^1,10,18

Hypophosphatasia causes pain and muscle weakness in children and adolescents.^1,10,11

A majority of children and adolescents with hypophosphatasia reported experiencing pain and muscle weakness.⁹

Mobility in children with hypophosphatasia is severely impaired compared with healthy peers.^9,20

Hypophosphatasia causes functional impairment in children and adolescents.^6,9

Children and adolescents with hypophosphatasia reported difficulty with a variety of normal childhood activities.^9,h

Hypophosphatasia has devastating consequences on growth, development, functionality, and daily life.^1,6,9,11,22

Low alkaline phosphatase (ALP) activity in children and adolescents with hypophosphatasia can lead to ongoing functional impairment that can dramatically impact quality of life.^1,6,9,11,22

Keep Me Updated
I want to know the latest news and
information about Hypophosphatasia.