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

Muhammad Kassim JavaidEmail author View ORCID ID profile,
Alison Boyce,
Natasha Appelman-Dijkstra,
Juling Ong,
Patrizia Defabianis,
Amaka Offiah,
Paul Arunde,
Nick Shaw,
Valter Dal Pos,
Ann Underhil,
Deanna Portero,
Lisa Heral,
Anne-Marie Heegaard,
Laura Masi,
Fergal Monsell,
Robert Stanton,
Pieter Durk Sander Dijkstra,
Maria Luisa Brandi,
Roland Chapurlat,
Neveen Agnes Therese Hamdy and
Michael Terrence Collins

Orphanet Journal of Rare Diseases201914:139

https://doi.org/10.1186/s13023-019-1102-9

Received: 7 February 2019
Accepted: 21 May 2019
Published: 13 June 2019

Abstract

Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNASgene. 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.