Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Orphanet Journal of Rare Diseases

Anne-Marie Heegaard¹  Neveen Agnes Therese Hamdy²  Natasha Appelman-Dijkstra²  Amaka Offiah³  Pieter Durk Sander Dijkstra⁴  Robert Stanton⁵  Juling Ong⁶  Laura Masi⁷  Maria Luisa Brandi⁷  Nick Shaw⁸  Valter Dal Pos⁹  Deanna Portero^1,10  Lisa Heral^1,10  Ann Underhil^1,11  Roland Chapurlat^1,12  Paul Arundel^1,13  Muhammad Kassim Javaid^1,14  Fergal Monsell^1,15  Patrizia Defabianis^1,16  Michael Terrence Collins^1,17  Alison Boyce^1,17 

[1] Department of Drug Design and Pharmacology, University of Copenhagen;Department of Medicine, Division of Endocrinology & Center for Bone Quality, Leiden University Medical Center;Department of Oncology & Metabolism, University of Sheffield;Department of Orthopaedic Surgery, Leiden University Medical Center;Department of Orthopaedic Surgery, Nemours Children’s Hospital;Department of Plastic Surgery, Craniofacial Centre, Great Ormond Street Hospital for Children NHS Trust;Department of Surgery and Translational Medicine, University of Florence;Endocrine Department, Birmingham Women’s and Children’s NHS Foundation Trust;European Association of Friends of McCune-Albright Syndrome (TO);Fibrous Dysplasia Foundation;Fibrous Dysplasia Support Society;INSERM UMR 1033 and Université de Lyon;Metabolic Bone Team, Sheffield Children’s Hospital;Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford;Paediatric Orthopaedic and Trauma Surgery, University Hospitals Bristol NHS Foundation Trust;Section of Paediatric Dentistry, University of Turin;Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research;

关键词: Fibrous dysplasia;    McCune Albright syndrome;    Guidelines;    Diagnosis;    Management;   

DOI  :  10.1186/s13023-019-1102-9

来源: DOAJ

【 摘 要 】

Abstract Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. The rarity of the disease and its variable presentation to multiple specialities often leads to misdiagnosis and inappropriate variability in investigations and treatments. To address this, our international consortium of clinicians, researchers, and patients’ advocates has developed pragmatic clinical guidelines for best clinical practice for the definition, diagnosis, staging, treatment and monitoring for FD/MAS to empower patients and support clinical teams in both general and specialised healthcare settings. With the lack of strong evidence to inform care, the guidelines were developed based on review of published literature, long-standing extensive experience of authors, input from other healthcare professionals involved in the care of FD/MAS patients and feedback from patients and patient groups across the globe. This has led to the formulation of a set of statements to inform healthcare professionals, patients, their families, carers and patient groups of the best practice of care. It is anticipated the implementation of these recommendations will lead to improvement in the care of patients with FD/MAS internationally.

【 授权许可】

Unknown