Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia
Copyright policy )Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia
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.
- University of Coimbra Portugal
- University of Lisbon Portugal
- University of Southampton United Kingdom
- University of Florence Italy
- National University Hospital Singapore
Fibroblast Growth Factor-23/metabolism, Hypophosphatemia, Endocrinology, Diabetes and Metabolism, Familial Hypophosphatemic Rickets / genetics, Wasting Syndrome / diagnosis, Familial Hypophosphatemic Rickets/diagnosis, Osteoarthritis/metabolism, 618.97, Endocrinology, Laboratory medicine & medical technology, Wasting Syndrome/diagnosis, Osteoarthritis / genetics, Wasting Syndrome / genetics, Human health sciences, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Familial Hypophosphatemic Rickets/drug therapy, Osteoarthritis/genetics, Familial Hypophosphatemic Rickets/genetics, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Wasting Syndrome/drug therapy, Wasting Syndrome/genetics, Médecine de laboratoire & technologie médicale, Rhumatologie, Wasting Syndrome / drug therapy, Familial Hypophosphatemic Rickets, Familial Hypophosphatemic Rickets / drug therapy, Adult, Public health, health care sciences & services, 610, Familial Hypophosphatemic Rickets / diagnosis, Osteoarthritis/diagnosis, Sciences de la santé humaine, Santé publique, services médicaux & soins de santé, Phosphates, 618, Rheumatology, 616, Osteoarthritis, Osteoarthritis/drug therapy, Animals, Humans, Wasting Syndrome / metabolism, Osteoarthritis / drug therapy, Wasting Syndrome, Fibroblast Growth Factor-23 / metabolism, Familial Hypophosphatemic Rickets/metabolism, Osteoarthritis / diagnosis, Osteoarthritis / metabolism, Familial Hypophosphatemic Rickets / metabolism, Wasting Syndrome/metabolism, Fibroblast Growth Factors, Fibroblast Growth Factor-23, Quality of Life
Fibroblast Growth Factor-23/metabolism, Hypophosphatemia, Endocrinology, Diabetes and Metabolism, Familial Hypophosphatemic Rickets / genetics, Wasting Syndrome / diagnosis, Familial Hypophosphatemic Rickets/diagnosis, Osteoarthritis/metabolism, 618.97, Endocrinology, Laboratory medicine & medical technology, Wasting Syndrome/diagnosis, Osteoarthritis / genetics, Wasting Syndrome / genetics, Human health sciences, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Familial Hypophosphatemic Rickets/drug therapy, Osteoarthritis/genetics, Familial Hypophosphatemic Rickets/genetics, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Wasting Syndrome/drug therapy, Wasting Syndrome/genetics, Médecine de laboratoire & technologie médicale, Rhumatologie, Wasting Syndrome / drug therapy, Familial Hypophosphatemic Rickets, Familial Hypophosphatemic Rickets / drug therapy, Adult, Public health, health care sciences & services, 610, Familial Hypophosphatemic Rickets / diagnosis, Osteoarthritis/diagnosis, Sciences de la santé humaine, Santé publique, services médicaux & soins de santé, Phosphates, 618, Rheumatology, 616, Osteoarthritis, Osteoarthritis/drug therapy, Animals, Humans, Wasting Syndrome / metabolism, Osteoarthritis / drug therapy, Wasting Syndrome, Fibroblast Growth Factor-23 / metabolism, Familial Hypophosphatemic Rickets/metabolism, Osteoarthritis / diagnosis, Osteoarthritis / metabolism, Familial Hypophosphatemic Rickets / metabolism, Wasting Syndrome/metabolism, Fibroblast Growth Factors, Fibroblast Growth Factor-23, Quality of Life
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