Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.

Adult Animals Familial Hypophosphatemic Rickets / diagnosis Fibroblast Growth Factor-23 / metabolism Humans Osteoarthritis / diagnosis Quality of Life Wasting Syndrome / diagnosis

Journal

Nature reviews. Endocrinology
ISSN: 1759-5037
Titre abrégé: Nat Rev Endocrinol
Pays: England
ID NLM: 101500078

Informations de publication

Date de publication:
06 2022
Historique:
accepted: 10 03 2022
pubmed: 29 4 2022
medline: 20 5 2022
entrez: 28 4 2022
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1038/s41574-022-00662-x PMID: 35484227
pubmed: 35484227
doi: 10.1038/s41574-022-00662-x
pii: 10.1038/s41574-022-00662-x
doi:

Substances chimiques

Fibroblast Growth Factor-23 7Q7P4S7RRE

Types de publication

Journal Article Review Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

366-384

Subventions

Organisme : Medical Research Council
ID : MC_PC_21003
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_21022
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UP_A620_1015
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_12011/2
Pays : United Kingdom

Informations de copyright

© 2022. Springer Nature Limited.

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Auteurs

Andrea Trombetti (A)

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.

Nasser Al-Daghri (N)

Chair for Biomarkers of Chronic Diseases, Biochemistry Department, College of Science, King Saud University, Riyadh, Kingdom of Saudi Arabia.

Maria Luisa Brandi (ML)

F.I.R.M.O. Foundation, University of Florence, Florence, Italy.

Jorge B Cannata-Andía (JB)

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.

Etienne Cavalier (E)

Department of Clinical Chemistry, University of Liege, CHU de Liège, Liège, Belgium.

Manju Chandran (M)

Complicated Metabolic Bone Disorders Clinic, Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital, Singapore, Singapore.

Catherine Chaussain (C)

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.

Lucia Cipullo (L)

Patient representative with XLH, Geneva, Switzerland.

Cyrus Cooper (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.
NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
ORCID: 0000-0003-3510-0709

Dieter Haffner (D)

Department of Paediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
ORCID: 0000-0002-9601-7813

Pol Harvengt (P)

XLH Belgium, Belgian association of patients with XLH (a member of the International XLH Alliance), Waterloo, Belgium.
ORCID: 0000-0003-1283-411X

Nicholas C Harvey (NC)

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.
ORCID: 0000-0002-8194-2512

Muhammad Kassim Javaid (MK)

NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.

Famida Jiwa (F)

Chair of the Committee of Patients Societies at the International Osteoporosis Foundation, Osteoporosis Canada, Toronto, Canada.

John A Kanis (JA)

Mary McKillop Institute for Health Research, Australian Catholic University, Melbourne, Australia.
Centre for Metabolic Bone Diseases, University of Sheffield Medical School, Sheffield, UK.

Andrea Laslop (A)

Scientific Office, Federal Office for Safety in Health Care, Vienna, Austria.

Michaël R Laurent (MR)

Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium.
ORCID: 0000-0001-9681-8330

Agnès Linglart (A)

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.
ORCID: 0000-0003-3455-002X

Andréa Marques (A)

Rheumatology Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.
Health Sciences Research Unit: Nursing (UICiSA:E), Nursing School of Coimbra, Coimbra, Portugal.

Gabriel T Mindler (GT)

Department of Paediatric Orthopaedics, Orthopaedic Hospital Speising, Vienna, Austria.
Vienna Bone and Growth Center, Vienna, Austria.
ORCID: 0000-0002-8533-2164

Salvatore Minisola (S)

Department of Clinical, Internal, Anaesthesiologic and Cardiovascular Sciences, 'Sapienza', Rome University, Rome, Italy.
ORCID: 0000-0001-6525-0439

María Concepción Prieto Yerro (MCP)

Agencia Española de Medicamentos Y Productos Sanitarios, Madrid, Spain.

Mario Miguel Rosa (MM)

Departamento de Neurociências, Laboratório de Farmacologia Clínica E Terapêutica Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.
ORCID: 0000-0003-3158-2106

Lothar Seefried (L)

Orthopedic Department, University of Würzburg, Würzburg, Germany.
ORCID: 0000-0003-1154-3388

Mila Vlaskovska (M)

Medical Faculty, Department of Pharmacology, Medical University Sofia, Sofia, Bulgaria.

María Belén Zanchetta (MB)

Instituto de Investigaciones Metabólicas (IDIM), Universidad del Salvador, Buenos Aires, Argentina.

René Rizzoli (R)

Division of Bone Diseases, Department of Medicine, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland. rene.rizzoli@unige.ch.
ORCID: 0000-0002-1537-422X

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