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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, 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

Skeletal manifestations

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
More on Dental

Physical function

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

Quality of life

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

1. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphataemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334. 2. Pettifor JM. What’s new in hypophosphataemic rickets? Eur J Pediatr. 2008;167(5):493-499. 3. Ruppe MD. X-linked hypophosphatemia. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. Gene Reviews. https://www.ncbi.nlm.nih.gov/books/NBK83985/. Accessed October 20, 2017. 4. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-R30. 5. Veilleux LN, Cheung M, Ben Amor M, Rauch F. Abnormalities in muscle density and muscle function in hypophosphatemic rickets. J Clin Endocrinol Metab. 2012;97(8):E1492-E1498.
With thanks to Kyowa Kirin International for prodiving graphics and citations

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