XLH Burden of Disease in Adults: Disability, Pain, Fractures

BURDEN OF DISEASE IN ADULTS

ADULTS WITH XLH HAVE AN ONGOING ACTIVE DISEASE DUE TO UNRESOLVED SYMPTOMS THAT CAN RESULT IN DISABILITY

PAIN

+

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.¹

Experience of pain may be exacerbated by the development of painful extraosseous calcifications (spine, neck, Achilles, hips) and osteoarthritis.² Adults with XLH reported increased pain and stiffness.²

The data is taken from an international burden-of-disease study conducted in 232 adult patients with XLH.²

FRACTURES

$Data on fractures for adults with X-linked hypophosphatemia$

On average, approximately 44% of adults with XLH indicated a history of fractures. The mean age at first fracture was 26.4 years. The average age of adults reporting fractures was 48.4 years and 42% reported at least three fractures.²

LIMITATIONS IN RANGE OF MOTION AND IMPAIRED PHYSICAL MOBILITY

+

Restrictions in range of motion and gait disturbances are common in adults with XLH, limiting their physical mobility. Many also suffer from pain and some adults may require the use of a walking device.²

Adults with XLH require ongoing disease management to prevent further damage from underlying osteomalacia

See pediatric and adult case studies

References:

1. Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC). American College of Rheumatology. Accessed March 14, 2022. https://www.rheumatology.org/I-Am-A/Rheumatologist/Research/Clinician-Researchers/Western-Ontario-McMaster-Universities-Osteoarthritis-Index-WOMAC 2. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334.