Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review

S. Giannini, M. L. Bianchi, D. Rendina, P. Massoletti, D. Lazzerini, M. L. Brandi

Research output: Contribution to journalReview articlepeer-review


Summary: X-linked hypophosphataemia (XLH) is a lifelong condition. Despite the mounting clinical evidence highlighting the long-term multi-organ sequelae of chronic phosphate wasting and consequent hypophosphatemia over the lifetime and the morbidities associated with adult age, XLH is still perceived as a paediatric disease. Introduction: Children who have XLH need to transition from paediatric to adult healthcare as young adults. While there is general agreement that all affected children should be treated (if the administration and tolerability of therapy can be adequately monitored), there is a lack of consensus regarding therapy in adults. Methods: To provide guidance in both diagnosis and treatment of adult XLH patients and promote better provision of care for this potentially underserved group of patients, we review the available clinical evidence and discuss the current challenges underlying the transition from childhood to adulthood care to develop appropriate management and follow-up patterns in adult XLH patients. Results and Conclusions: Such a multi-systemic lifelong disease would demand that the multidisciplinary approach, successfully experienced in children, could be transitioned to adulthood care with an integration of specialized sub-disciplines to efficiently control musculoskeletal symptoms while optimizing patients’ QoL. Overall, it would be desirable that transition to adulthood care could be a responsibility shared by the paediatric and adult XLH teams. Pharmacological management should require an adequate balance between the benefits derived from the treatment itself with complicated and long-term monitoring and the potential risks, as they may differ across age strata.

Original languageEnglish
Pages (from-to)1937-1949
Number of pages13
JournalOsteoporosis International
Issue number10
Publication statusPublished - Oct 2021


  • Clinical targets
  • Phosphate
  • Transition to adulthood
  • X-linked hypophosphatemia

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism


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