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Effects on patient-reported outcomes†

Adults with XLH experienced more pain and stiffness compared to the general population.2

Experience of pain may be exacerbated by the development of painful extraosseous calcifications (spine, Achilles tendon, hips) and osteoarthritis.3

Patient-reported outcomes related to pain, stiffness, and physical limitations in adults with XLH
Bar graph showing worse pain, stiffness, and physical functioning in adults with XLH compared to the general population

Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) is a questionnaire designed to assess pain, stiffness, and physical function in patients with hip and/or knee osteoarthritis. It has been used among patients with different conditions, including low back pain, rheumatoid arthritis, juvenile rheumatoid arthritis, systemic lupus erythematosus, and fibromyalgia.4

Effects on the musculoskeletal system†

On average, approximately:2

  • 44% of adults with XLH reported having a history of fractures or pseudofractures.
  • Among adults reporting a history of fractures or pseudofractures, the mean age of first fracture/ pseudofracture was 26.5 years.
Effects on range of motion and physical mobility‡

In a 2017 study consisting of 29 adults with XLH:5

  • 93% of patients reported difficulties with mobility vs. 14% of the general population.
  • 80% of patients with XLH also experienced difficulties in performing daily activities vs. 11% of the general population.

Many patients also suffered from pain, and some adults were unable to walk independently.

Effects on social and emotional wellness1,6

In a 2017 survey of 186 adults with XLH, 84% of adults believed that over time, their chronic hypophosphatemia had a greater impact and affected more areas of their lives.1

  • In a 2019 survey, the majority of patients reported negative social experiences as a result of their XLH, including bullying and unwanted social attention, that often resulted in low self-esteem, frustration, and depression.6§
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Adults with XLH may require long-term MANAGEMENT to prevent further damage from chronic hypophosphatemia. Find out more about diagnosing XLH.

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† These data are taken from an international burden-of-disease study conducted in 232 adult patients with XLH. Responses were collected from adults with XLH and parents/caregivers of a child with XLH in an online survey, including multiple-choice and open-ended questions on demographics, disease manifestations, history, assistive device use, and age-specific patient-reported outcomes.2

‡ Study with 29 adult patients with XLH to analyze the health-related quality (HRQoL) of life using the EuroQol‑5 dimensions (EQ‑5D) instrument. HRQoL of patients was compared to that of the general Spanish population.5

§ A cross-sectional qualitative study (N=30) was conducted in the United Kingdom, Finland, France, Germany and Luxembourg with XLH patients aged 26 and over. Interview discussion guides were developed in consultation with clinical experts and patient associations. Data were analysed thematically.6

References:

1. Hamilton AA, et al. J Endocr Soc. 2022;6(8):bvac086 2. Skrinar A, et al. J Endocr Soc. 2019;3(7):1321-1334. 3. Dahir K, et al. J Endocr Soc. 2020;4(12):bvaa151. 4. Theodore-Oklota C, et al. Value Health. 2018;21(8):973-983. 5. Yanes MIL, et al. Orphanet J Rare Dis. 2022;17(1):298. 6. Lo S.H, et al. Quality of Life Research, 2020, 29:1883–1893.