Oral Presentation ANZBMS-MEPSA-ANZORS 2022

Understanding the burden of disease for those living with X-Linked Hypophosphatemia: a consumer perspective. (#38)

Jessica Sandy 1 , Naomi Ford 2 , Peter Simm 3 , Christine Rodda 4 , Aris Siafarikas 5 , Christine Wall 1 , Andrew Biggin 1 , Sandy Bevc 2 , Craig F Munns 6 7
  1. Endocrinology and Diabetes, The Children's Hospital at Westmead, Westmead, NSW, Australia
  2. XLH Australia , Brisbane, QLD, Australia
  3. Endocrinology and Diabetes, The Royal Children's Hospital , Melbourne, VIC, Australia
  4. Endocrinology and Diabetes, Sunshine Hospital, Melbourne, VIC, Australia
  5. Endocrinology and Diabetes, Perth Children's Hospital, Perth, WA, Australia
  6. Endocrinology and Diabetes, Queensland Children's Hospital, South Brisbane, QLD, Australia
  7. The University of Queensland, South Brisbane, QLD, Australia

Aim: To describe the physical, social and psychological burden of disease in a cohort of children and adults with X-linked hypophosphatemia (XLH).

Method: In December 2021 and January 2022, XLH Australia Incorporated (in collaboration with Kyowa Kirin Australia) conducted a nationwide online survey of patients and carers of those living with X-linked hypophosphataemia (XLH).

Background: Much research has been conducted into the cause of the inherited X-linked Hypophosphatemia but little is known about the true burden of disease for consumers, particularly in Australia. This is the first Australian consumer survey targeting patients, and carers of patients, living with XLH. XLH impacts approximately 1:20,000 world-wide. The number of Australians living with XLH is uncertain.

Results: 250 consumers and carers known to XLH Australia were sent the survey, with a total of n=46 people (18%) participating (23 carers and 23 people with XLH), with 87% experiencing self-reported moderate or severe XLH. 32 of those with XLH were female and 15 were <18 years of age and 1 respondent was >75 years of age. XLH was reported to impact psychological wellbeing in 80% of those with XLH, with 54% reporting the psychological  and physical impacts of XLH were equally burdensome. XLH was felt to impact daily life (Table). 70% of respondents were on medical therapy for XLH and 85% had undergone orthopaedic surgery (50% had undergone >5 surgical procedures).

Conclusion: This study showed that consumers experienced physical, social and psychological impacts from living with XLH that starts from an early age and lasts throughout adult life. These data highlight the need to ensure that there is a wholistic approach to management.

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