Treatment Guidelines Fd Mas Alliance

Leo Migdal

-Dec 5, 2025, 3:51 PM

Home Disease Information Treatment Guidelines: A Clinical Pathway for FD/MAS Care In the June of 2019 the International Consortium of FD/MAS Researchers published Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium in Orphanet Journal of Rare Diseases. FDF has been involved with this publication from the very first draft, ensuring that patient perspectives were taken in to account. The result is an updated and improved guide for patients, caregivers and clinicians managing the fibrous dysplasia and McCune-Albright syndrome (FD/MAS). Previous Treatment Guidelines used research to create a checklist of sorts for patient care. This updated version combines the research and checklist formats in to one document: This links to the Clinical Pathway in full.

Additional files included at the end of the full article provide flowcharts for patients and clinicians to follow: We deliver important information about treatment, research, resources and other initiatives. Received 2019 Feb 7; Accepted 2019 May 21; Collection date 2019. Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the... The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. 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... 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... 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.

The online version of this article (10.1186/s13023-019-1102-9) contains supplementary material, which is available to authorized users. Keywords: Fibrous dysplasia, McCune Albright syndrome, Guidelines, Diagnosis, Management 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 specialties sometimes 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...

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... 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. The Clinical Pathway for FD/MAS is currently being revise and will be signposted here when available. We promote healthcare providers who see patients with FD/MAS or researchers interested in the disease to become a member of the consortium to stay up to date for meetings, guideline updates and other developments. Download the membership form here APPLICATION-MEMBERSHIP-INTERNATIONAL-CONSORTIUM-FD_MAS and send it back to info@icfdmas.com.

The FD/MAS Alliance and Dr. Upadhyay: A Multi-Million Dollar Success Story in Patient-Powered Research A strong patient advocacy organization can have a transformative impact on rare disease therapeutic development. FD/MAS Alliance aims to provide keystone supports that help researchers to advance the science of fibrous dysplasia, McCune-Albright syndrome, a rare and often debilitating bone and […] We are pleased to share FD/MAS Alliance’s Annual Report Because of your support, we had an incredible year of progress for the fibrous dysplasia, McCune-Albright syndrome (FD/MAS) community! This year, the FD/MAS Patient Registry served as a recruitment resource for researchers studying FD/MAS and pain. We also awarded over $120,000 in new research grants and […]

Join us December 10th, 2025 at 7:30 pm EDT (4:30 pm PDT) for a Holiday Themed FD/MAS Community Meet-up hosted by members of the Patient Advisory Council. Join the Patient Advisory Council for some holiday cheer from around the world. Share your favorite holiday tradition and hear from others! Sarah and Beatriz have some fun […] Received 2024 Nov 12; Accepted 2025 May 6; Collection date 2025. This article is distributed under the terms of the Creative Commons Attribution 4.0 License (https://creativecommons.org/licenses/by/4.0/) which permits any use, reproduction and distribution of the work without further permission provided the original work is attributed...

Fibrous dysplasia (FD) is a rare, benign skeletal disorder characterized by expansile, fibrotic bone lesions that replace normal bone, resulting in decreased bone strength, pain, and fractures. The clinical presentation of FD can vary widely, complicating the diagnosis. FD can manifest as monostotic (single bone) or polyostotic (multiple bones) disease and can occur independently or as part of McCune–Albright Syndrome (MAS), a genetic condition that includes café-au-lait skin hyperpigmentation and endocrine abnormalities. FD/MAS arises from activating mutations in the GNAS gene, leading to constitutive activation of the Gsα protein and elevated cAMP levels. Despite understanding the genetic cause of FD, effective treatments remain limited. Current management strategies focus primarily on symptom control following the most recent comprehensive guidelines published in 2019.

This review highlights emerging pharmacologic treatments, including denosumab, a monoclonal antibody that has shown promise in reducing lesion size and pain in FD patients, and burosumab, a monoclonal antibody targeting FGF23, which reduces renal... In addition, we review updates in advanced genetic testing techniques, such as cell-free DNA and direct lesion sampling for next-generation sequencing, which are promising methods for improving the diagnostic accuracy of FD. Finally, multimodal approaches for pain management in FD, including nonsteroidal anti-inflammatory drugs, bisphosphonates, and novel agents like cannabinoids, are being used alongside the traditional approaches with physical therapy and psychological support. Ongoing research aims to enhance our understanding of FD pathogenesis and develop targeted therapies that could potentially reverse disease progression. This review underscores the importance of implementing a multidisciplinary approach in the management of FD/MAS and finding new therapeutic approaches that will help address the diverse manifestations and improve the quality of life for... Keywords: bisphosphonates, fibrous dysplasia, McCune-Albright syndrome, metabolic bone disease, pain management

Fibrous dysplasia (FD) of the bone is a genetic skeletal dysplasia characterized by the abnormal formation of fibrous tissue in place of normal bone, leading to decreased bone strength, expansile bone lesions, and fractures. 1 FD accounts for 2.5% of all bone lesions and 7% of benign skeletal dysplasias, 2 with craniofacial and long bones being major sites. 3 Although the genetic mutations that lead to FD are known and are located at the GNAS locus, medical treatments for this disfiguring disorder are sorely lacking. 4 FD most commonly occurs in isolation as monostotic disease, but can also affect multiple bones (polyostotic FD) or be part of McCune–Albright Syndrome (MAS), a somatic mosaic genetic condition characterized by polyostotic FD,... Treatment guidelines compiled by the International Consortium of FD/MAS researchers. These guidelines include a series of flowcharts that can help patients and caregivers decide on appropriate screening and treatment plans.

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... 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... 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. Connectez-vous pour contacter le contributeur https://inserm.hal.science/inserm-05021278 Soumis le : vendredi 4 avril 2025-15:42:45 Dernière modification le : mercredi 2 juillet 2025-03:20:19

Treatment Guidelines Fd Mas Alliance

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Home Disease Information Treatment Guidelines: A Clinical Pathway For FD/MAS

Additional Files Included At The End Of The Full Article

The Mutation Leads To Overactivity In The Target Tissues And

The Online Version Of This Article (10.1186/s13023-019-1102-9) Contains Supplementary Material,

With The Lack Of Strong Evidence To Inform Care, The