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.
Highlights
Fibrous dysplasia/McCune-Albright syndrome (FD/ Fibrous Dysplasia / McCune Albright Syndrome (MAS); OMIM#174800) is a rare disorder characterized by skeletal lesions, skin hyperpigmentation, and hyperfunctioning endocrinopathies [1, 2]
Evaluation of quality of life in Fibrous Dysplasia (FD)/MAS The evaluation of quality of life in patients with FD/ MAS should be performed with language specific versions of the EQ5D-5 L [43] and SF 36 [44] in adults and the PEDS-QL [45] in children
General measures Provision of information about the disease Provision of sufficient information about the disease to the patient and families is of outmost importance for this rare disease, which may be associated with debilitating manifestations, and for which there is no cure and no approved treatment
Summary
Fibrous dysplasia/McCune-Albright syndrome (FD/ MAS; OMIM#174800) is a rare disorder characterized by skeletal lesions, skin hyperpigmentation, and hyperfunctioning endocrinopathies [1, 2] It arises from postzygotic gain-of-function mutations in the GNAS gene, which encodes the α-subunit of the Gs signalling protein [3]. There are as yet substantial knowledge gaps about FD/MAS pathophysiology and natural history, and a paucity of hard evidence from clinical trials for different diagnostics and therapeutic approaches. To address these challenges, an international consortium of clinicians, researchers, and patients’ advocates convened to develop standard of care guidelines for diagnosis and management of FD/MAS based on best available evidence and expert opinion [6]. The aim of developing best clinical practice care guidelines for diagnosis and management of FD/MAS is to harmonize the care of FD/MAS internationally, to provide standards of care for the development and evaluation of patient-related outcome measures, to provide a uniform cross-border standard of care for inclusion of patients into clinical trials, and to enable comparison of collected clinical care and research FD/MAS data between centres and studies
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