Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.
Trombetti, Andrea; Al-Daghri, Nasser; Brandi, Maria Luisaet al.
2022 • In Nature Reviews. Endocrinology, 18 (6), p. 366-384
[en] 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.
Disciplines :
Laboratory medicine & medical technology Rheumatology Public health, health care sciences & services
Author, co-author :
Trombetti, Andrea; Division of Bone Diseases, Department of Medicine, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland ; Division of Geriatrics, Department of Rehabilitation and Geriatrics, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland
Al-Daghri, Nasser; Chair for Biomarkers of Chronic Diseases, Biochemistry Department, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia
Brandi, Maria Luisa; F.I.R.M.O. Foundation, University of Florence, Florence, Italy
Cannata-Andía, Jorge B; Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain ; Universidad de Oviedo, Oviedo, Spain ; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain ; Retic REDinREN-RICORS, 2040-ISCIII, Madrid, Spain
CAVALIER, Etienne ; Centre Hospitalier Universitaire de Liège - CHU > > Service de chimie clinique
Chandran, Manju; Complicated Metabolic Bone Disorders Clinic, Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Singapore, Singapore
Chaussain, Catherine; Université de Paris, Institut des maladies musculo-squelettiques, URP2496, UFR Odontologie, Montrouge, France ; AP-HP, FHU DDS-Net, Centre de Référence des Maladies Rares du Métabolisme du Calcium et du Phosphore, Service médecine bucco-dentaire, Hôpital Bretonneau, GH Paris Nord Université de Paris, Paris, France
Cipullo, Lucia; Patient representative with XLH, Geneva, Switzerland
Cooper, Cyrus ; MRC Lifecourse Epidemiology Centre, University of Southampton, Southampton, UK ; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK ; NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK
Haffner, Dieter ; Department of Paediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany
Harvengt, Pol ; XLH Belgium, Belgian association of patients with XLH (a member of the International XLH Alliance), Waterloo, Belgium
Harvey, Nicholas C ; MRC Lifecourse Epidemiology Centre, University of Southampton, Southampton, UK ; NIHR Southampton Biomedical Research Centre, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK
Javaid, Muhammad Kassim; NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK
Jiwa, Famida; Chair of the Committee of Patients Societies at the International Osteoporosis Foundation, Osteoporosis Canada, Toronto, Canada
Kanis, John A; Mary McKillop Institute for Health Research, Australian Catholic University, Melbourne, Australia ; Centre for Metabolic Bone Diseases, University of Sheffield Medical School, Sheffield, UK
Laslop, Andrea; Scientific Office, Federal Office for Safety in Health Care, Vienna, Austria
Laurent, Michaël R ; Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium
Linglart, Agnès ; Paris-Saclay University, INSERM U1185, Le Kremlin-Bicêtre, France ; AP-HP, endocrinology and diabetes for children, Reference centre for rare diseases of calcium and phosphate metabolism, OSCAR network, Platform of expertise for rare diseases of Paris Saclay Hospital, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France
Marques, Andréa; Rheumatology Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal ; Health Sciences Research Unit: Nursing (UICiSA:E), Nursing School of Coimbra, Coimbra, Portugal
Mindler, Gabriel T ; Department of Paediatric Orthopaedics, Orthopaedic Hospital Speising, Vienna, Austria ; Vienna Bone and Growth Center, Vienna, Austria
Minisola, Salvatore ; Department of Clinical, Internal, Anaesthesiologic and Cardiovascular Sciences, 'Sapienza', Rome University, Rome, Italy
Yerro, María Concepción Prieto; Agencia Española de Medicamentos Y Productos Sanitarios, Madrid, Spain
Rosa, Mario Miguel ; Departamento de Neurociências, Laboratório de Farmacologia Clínica E Terapêutica Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal
Seefried, Lothar ; Orthopedic Department, University of Würzburg, Würzburg, Germany
Vlaskovska, Mila; Medical Faculty, Department of Pharmacology, Medical University Sofia, Sofia, Bulgaria
Zanchetta, María Belén; Instituto de Investigaciones Metabólicas (IDIM), Universidad del Salvador, Buenos Aires, Argentina
Rizzoli, René ; Division of Bone Diseases, Department of Medicine, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland. rene.rizzoli@unige.ch
Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.
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.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.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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