Clinical manifestations in paediatric patients with XLH
XLH causes lifelong skeletal disease and can substantially decrease physical function and quality of life1
XLH typically presents during the first 2 years of life with progressive lower-extremity bowing or genu valgum, impaired growth after the onset of weight bearing, and the characteristic clinical signs of rickets. Pain, gait disturbances, and impaired gross motor function may also be observed.2,3
Children with XLH suffer from poor quality of life, impaired mobility, and bone and joint pain.1
In addition to skeletal disease and impaired growth, children with XLH may also have dental manifestations of the disease.1,4
Growth
While linear body dimensions are significantly reduced compared to those of normal children at all ages, there is a strong association between stature and leg length in paediatric XLH patients.10
Generally, leg length decreases progressively during childhood and adolescence, while sitting height increases significantly during late childhood.10
Dental Manifestations
XLH patients can be affected by tooth abscesses in both deciduous and permanent dentition. The disease results in a diminished barrier to the exterior of the tooth, with cracks in the thin enamel, extended pulp horns, and abnormal formation of the dentine, allowing bacteria and infections to enter the tooth pulp chamber without any visible damage to the tooth.4,11
In an international online survey of parents/caregivers of 90 children with XLH aged 0 to 18 years, it was found that 51% of children had dental abscesses.1
Children with XLH can experience diminished mobility and functional limitations4
In children with XLH, lower-extremity muscle strength and walking ability are substantially decreased relative to non-XLH children.5
Children with XLH can have impaired quality of life (QOL)1
Skeletal manifestations of XLH impact physical and psychosocial quality of life in paediatric patients.1
Added to this, many XLH children experience regular joint pain.1
Over 55% of children with XLH report knee pain. Pain is also commonly experienced in the1
- Feet
- Hips
- Ankles
