Specialist Information International Consortium For Fd Mas
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. 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
McCune–Albright syndrome (MAS) is a complex genetic disorder affecting the bone, skin and endocrine systems. It was first described in 1937 by American pediatrician Donovan James McCune and American endocrinologist Fuller Albright. Fibrous dysplasia (FD) is a bone disease characterized by areas of abnormal growth or lesions in one, several, or many bones. FD can occur in any bone. The skull is frequently affected as are legs, arms, and ribs. The Fibrous Dysplasia Support Society was formed in 2007 by a group of patients and their carers who are affected by Fibrous Dysplasia (FD), McCune Albright Syndrome (MAS).
Raising awareness and supporting the Fibrous Dysplasia and McCune Albright community Supporting a better future for Fibrous Dysplasia and McCune Albright Syndrome patients 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 […]
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. Keywords: Diagnosis; Fibrous dysplasia; Guidelines; Management; McCune Albright syndrome. Financial MKJ has received consultancy fees from Amgen for work unrelated to this manuscript. Representative images of café-au-lait macules… Representative images of café-au-lait macules in patients with McCune-Albright syndrome. Photographs of the…
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Fibrous Dysplasia / McCune Albright Syndrome (FD/MAS) Represents A Wide
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 misdia...
It Is Anticipated The Implementation Of These Recommendations Will Lead
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 ...
FDF Has Been Involved With This Publication From The Very
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 ...
Received 2019 Feb 7; Accepted 2019 May 21; Collection Date
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 ...
To Address This, Our International Consortium Of Clinicians, Researchers, And
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-standin...