Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium
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 r...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
BioMed Central
2019
|
| _version_ | 1797052765977968640 |
|---|---|
| author | Javaid, M Boyce, A Appelman-Dijkstra, N Ong, J Defabianis, P Offiah, A Arunde, P Shaw, N Pos, V Underhil, A Portero, D Heral, L Heegaard, A Masi, L Monsell, F Stanton, R Dijkstra, P Brandi, M Chapurlat, R Hamdy, N Collins, M |
| author_facet | Javaid, M Boyce, A Appelman-Dijkstra, N Ong, J Defabianis, P Offiah, A Arunde, P Shaw, N Pos, V Underhil, A Portero, D Heral, L Heegaard, A Masi, L Monsell, F Stanton, R Dijkstra, P Brandi, M Chapurlat, R Hamdy, N Collins, M |
| author_sort | Javaid, M |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-06T18:35:15Z |
| format | Journal article |
| id | oxford-uuid:0afe972f-6632-4601-87fc-c6fde2fe6660 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T18:35:15Z |
| publishDate | 2019 |
| publisher | BioMed Central |
| record_format | dspace |
| spelling | oxford-uuid:0afe972f-6632-4601-87fc-c6fde2fe66602022-03-26T09:27:08ZBest practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortiumJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:0afe972f-6632-4601-87fc-c6fde2fe6660EnglishSymplectic Elements at OxfordBioMed Central2019Javaid, MBoyce, AAppelman-Dijkstra, NOng, JDefabianis, POffiah, AArunde, PShaw, NPos, VUnderhil, APortero, DHeral, LHeegaard, AMasi, LMonsell, FStanton, RDijkstra, PBrandi, MChapurlat, RHamdy, NCollins, MFibrous 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. |
| spellingShingle | Javaid, M Boyce, A Appelman-Dijkstra, N Ong, J Defabianis, P Offiah, A Arunde, P Shaw, N Pos, V Underhil, A Portero, D Heral, L Heegaard, A Masi, L Monsell, F Stanton, R Dijkstra, P Brandi, M Chapurlat, R Hamdy, N Collins, M Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium |
| title | Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium |
| title_full | Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium |
| title_fullStr | Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium |
| title_full_unstemmed | Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium |
| title_short | Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium |
| title_sort | best practice management guidelines for fibrous dysplasia mccune albright syndrome a consensus statement from the fd mas international consortium |
| work_keys_str_mv | AT javaidm bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT boycea bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT appelmandijkstran bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT ongj bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT defabianisp bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT offiaha bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT arundep bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT shawn bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT posv bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT underhila bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT porterod bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT herall bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT heegaarda bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT masil bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT monsellf bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT stantonr bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT dijkstrap bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT brandim bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT chapurlatr bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT hamdyn bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium AT collinsm bestpracticemanagementguidelinesforfibrousdysplasiamccunealbrightsyndromeaconsensusstatementfromthefdmasinternationalconsortium |