Abstract
X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high levels of the phosphaturic hormone fibroblast growth factor 23 (FGF23). In addition to rickets and osteomalacia, patients with XLH have a heavy disease burden with enthesopathies, osteoarthritis, pseudofractures and dental complications, all of which contribute to reduced quality of life. This Consensus Statement presents the outcomes of a working group of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases, and provides robust clinical evidence on management in XLH, with an emphasis on patients’ experiences and needs. During growth, conventional treatment with phosphate supplements and active vitamin D metabolites (such as calcitriol) improves growth, ameliorates leg deformities and dental manifestations, and reduces pain. The continuation of conventional treatment in symptom-free adults is still debated. A novel therapeutic approach is the monoclonal anti-FGF23 antibody burosumab. Although promising, further studies are required to clarify its long-term efficacy, particularly in adults. Given the diversity of symptoms and complications, an interdisciplinary approach to management is of paramount importance. The focus of treatment should be not only on the physical manifestations and challenges associated with XLH and other FGF23-mediated hypophosphataemia syndromes, but also on the major psychological and social impact of the disease.
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Accepted/In Press date: 10 March 2022
e-pub ahead of print date: 28 April 2022
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Funding Information:
The Working Group was entirely funded by the European Society for Clinical and Economic Aspects of Osteoporosis and Osteoarthritis and Musculoskeletal Diseases (ESCEO). ESCEO received unrestricted educational grants to support its educational and scientific activities from non-governmental organizations, not-for-profit organizations, and non-commercial and corporate partners. The choice of topics, participants, content and agenda of the Working Groups, as well as the writing, editing, submission and reviewing of the manuscript are under the sole responsibility of ESCEO, without any influence from third parties. We thank A. Banerjee, Y. Sumi and R. Sadana (Department of Ageing and Life Course, World Health Organization, Geneva, Switzerland) for their participation and support of the working group meeting.
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A.T. has received fees for consulting from VIFOR. M.L.B. has received honoraria, consultancy and lecture fees and/or research grants from Abiogen, Alexion, Amgen, Amolyt, Bruno Farmaceutici, Calcilytix, Echolight, Eli Lilly, Kyowa Kirin, Servier, SPA, Theramex and UCB. E.C. is a consultant for DiaSorin, Fujirebio, IDS and Nittobo. C. Cooper has received lecture fees and consulting honoraria from Amgen, MSD, Eli Lilly, Procter & Gamble, Aventis, GSK/Roche, Novartis, Nycomed, Radius, Servier and Wyeth Pharmaceuticals. D.H. has received consultancy and lecture fees and/or research grants from Amgen, Chiesi and Kyowa Kirin. P.H. is an employee of GSK, but in that capacity has no financial interest in any project associated with the topic of this article. N.C.H. has received consultancy, lecture fees and honoraria from Alliance for Better Bone Health, AMGEN, MSD, Eli Lilly, Servier, UCS, Shire, Consilient Healthcare, Kyowa Kirin and Internis Pharma. M.K.J. has received grants and honoraria from Kyowa Kirin. M.R.L. has received consultancy and lecture fees from Alexion, Amgen, Kyowa Kirin, Menarini, Orifarm, Sandoz, Takeda, UCB and Will Pharma. A. Linglart has received lecture fees and/or research grants from NovoNordisk, Pfizer, Merck, Alexion and Kyowa Kirin. S.M. served as speaker for Abiogen, Amgen, Bruno Farmaceutici, Diasorin, Eli Lilly, Shire, Sandoz and Takeda, and on the advisory board of Abiogen, Kyowa Kirin, Pfizer and UCB. L.S. has received honoraria for lectures and advice from Abbvie, Amgen, Alexion, GSK, Kyowa Kirin, Eli Lilly, MSD, Novartis, Servier, Theramex and UCB, and research grants from Alexion, KyowaKirin and Novartis. M.B.Z. has received consultancy fees and lecture fees from Amgen, Eli Lilly and Ultragenyx. R.R. has received fees for lectures or advisory boards from Abiogen, Amgen, Danone, Echolight, European Milk Forum, Mithra, Nestlé, ObsEva, Pfizer Consumer Health, Radius Health, Rejunevate and Theramex. The remaining authors declare no competing interests.
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Local EPrints ID: 485162
URI: http://eprints.soton.ac.uk/id/eprint/485162
ISSN: 1759-5029
PURE UUID: 9eefe4ea-3548-4005-a950-4a1081c4455a
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Date deposited: 30 Nov 2023 17:41
Last modified: 18 Mar 2024 02:59
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