When Low Bone Mineral Density and Fractures Is Not Osteoporosis.

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Abstract

[Indexed for MEDLINE] 18. Front Endocrinol (Lausanne). 2021 Mar 19;12:641543. doi: 10.3389/fendo.2021.641543. eCollection 2021. Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium. Laurent MR(1), De Schepper J(2)(3), Trouet D(4)(5), Godefroid N(6), Boros E(7), Heinrichs C(7), Bravenboer B(8), Velkeniers B(8), Lammens J(9), Harvengt P(10), Cavalier E(11), Kaux JF(12), Lombet J(13), De Waele K(3), Verroken C(14), van Hoeck K(4)(5), Mortier GR(15), Levtchenko E(16), Vande Walle J(17). Author information: (1)Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium. (2)Division of Pediatric Endocrinology, KidZ Health Castle, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium. (3)Department of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium. (4)Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp, Belgium. (5)Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium. (6)Pediatric Nephrology, Cliniques Universitaires St. Luc (UCL), Brussels, Belgium. (7)Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium. (8)Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium. (9)Department of Orthopaedic Surgery and Department of Development and Regeneration, Prometheus LRD Division of Skeletal Tissue Engineering, KU Leuven - University Hospitals Leuven, Leuven, Belgium. (10)XLH Belgium, Belgian X-Linked Hypophosphatemic Rickets (XLH) Patient Association, Waterloo, Belgium. (11)Department of Clinical Chemistry, University Hospital Center of Liège, University of Liège, Liège, Belgium. (12)Physical Medicine, Rehabilitation and Sports Traumatology, University and University Hospital of Liège, Liège, Belgium. (13)Division of Nephrology, Department of Pediatrics, University Hospital Center of Liège, Liège, Belgium. (14)Unit for Osteoporosis and Metabolic Bone Diseases, Department of Endocrinology and Metabolism, Ghent University Hospital, Ghent, Belgium. (15)Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium. (16)Department of Pediatrics/Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium. (17)Department of Pediatric Nephrology, University Hospital Ghent, Ghent, Belgium. Erratum in Front Endocrinol (Lausanne). 2021 May 25;12:686401. doi: 10.3389/fendo.2021.686401. X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidisciplinary group of Belgian experts convened to discuss translation of international best available evidence into locally feasible consensus recommendations. Patients with XLH may present to a wide array of primary, secondary and tertiary care physicians, among whom awareness of the disease should be raised. XLH has a very broad differential-diagnosis for which clinical features, biochemical and genetic testing in centers of expertise are recommended. Optimal care requires a multidisciplinary approach, guided by an expert in metabolic bone diseases and involving (according to the individual patient's needs) pediatric and adult medical specialties and paramedical caregivers, including but not limited to general practitioners, dentists, radiologists and orthopedic surgeons. In children with severe or refractory symptoms, FGF23 inhibition using burosumab may provide superior outcomes compared to conventional medical therapy with phosphate supplements and active vitamin D analogues. Burosumab has also demonstrated promising results in adults on certain clinical outcomes such as pseudofractures. In summary, this work outlines recommendations for clinicians and policymakers, with a vision for improving the diagnostic and therapeutic landscape for XLH patients in Belgium. Copyright © 2021 Laurent, De Schepper, Trouet, Godefroid, Boros, Heinrichs, Bravenboer, Velkeniers, Lammens, Harvengt, Cavalier, Kaux, Lombet, De Waele, Verroken, van Hoeck, Mortier, Levtchenko and Vande Walle. DOI: 10.3389/fendo.2021.641543 PMCID: PMC8018577