The FDSS website is using medical information provided by the Fibrous Dysplasia Foundation (FDF) of America. We would like to thank the FDF for all the help and support they have given, and continue to give, us since 2007.
Medical Guidelines

The Pathway

A key element in supporting all FD/MAS sufferers is providing advice and guidance to both patients and doctors on how make best use of their time at appointments to deliver ongoing diagnosis and treatment.

To that end the pathway has been developed by a team of top medical experts from around the world to assist in this.

There are three parts - the main document covering diagnosis, staging, treatment and monitoring; the patient checklist and the flowcharts and full information is provided here. 

A key part of the pathway is a checklist for patients and their family to complete to help them and their healthcare team make the most of clinic appointments - please download and complete the form here.

Anne Underhill was a key FDSSUK representative on the authoring group. This information is published with permission under the Creative Commons Attribution (CC-BY) licence and Javaid et al. Orph J Rare Dis 2019.
The Pathway
Medical
Guidelines
Index
Medical Guidelines Index
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1

FD/MAS Patient Checklist and Assessing Bones flowchart 
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2
Managing FD of the skull
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3
Treating Bone Pain
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4
Treating Hormone Problems
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5
Treating Thigh Bone Problems
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6
Best Practice Management Guidelines for FD / MAS
Click on these numbered tabs (see index)

FD/MAS Patient Checklist

You can download a larger version of the flowchart shown above here


Fibrous Dysplasia and McCune-Albright Syndrome:

A Checklist for Patients and Doctors

A Tool from the FD/MAS International Consortium


About This Resource


Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare and complicated disease that can affect the bones, skin and hormone glands.

FD/MAS is caused by a random genetic mutation. It is not inherited, and it cannot be passed down.

FD/MAS is so rare that you or your child could be the first person with FD/MAS that your doctors have ever treated. That means that your doctors might not be sure if FD/MAS is the right diagnosis or how to help you or your child.


The Clinical Pathway is a clear set of instructions for your doctors to follow. It was created by a team of top medical experts from across the globe who have treated hundreds of patients with FD/MAS and have learned from experience the best ways to take care of FD/MAS patients. These experienced doctors published this guide in 2018 because they want to help other doctors around the globe understand which tests and treatments they should order for patients with FD/MAS. You can print out copies of the Clinical Pathway and give one to every doctor who helps you manage FD/MAS symptoms.


Part of this Clinical Pathway is this checklist for patients and parents to help discussion with your doctor and healthcare team. We want this checklist to help you plan and get the most of your doctor appointments. 


There are three parts to the checklist:

  1. Questions you should ask about your diagnosis 
  2. Questions you should ask to help plan your care 
  3. Questions your doctor may ask you

Independent translations of this Checklist may be available in other languages. Please contact a national or international FD/MAS patient association for more information.

Asociación de Displasia Fibrosa, displasiafibrosa.es, Spain

Associação McCune-Albright Brasil, masfd.blog, Brazil

Association MAS-FD, masfd.org, France

European Association McCune-Albright Syndrome (EAMAS), eamas.net, Italy Fibrous Dysplasia Foundation, fibrousdysplasia.org, USA

Fibrous Dysplasia Support Society, fdssuk.org.uk, United Kingdom Patiëntenvereniging Fibreuze Dysplasie, fibreuzedysplasie.eu, Netherlands


You can download the full checklist in PDF format using this link

 (opens in a new browser tab/window):

FD/MAS Patient Checklist

Managing FD of the skull

You can download a larger version of the flowchart shown above using this link:

Managing FD of the skull

Treating Bone Pain

You can download a larger version of the flowchart shown above using this link:

Treating Bone Pain

Hormone Problems

There are 10 associated flowcharts available for download in a mulitpage PDF using the link below:

Treating Hormone Problems

Thighbone Problems

You can download a larger version of the flowchart shown above using this link:

Treating Thighbone Problems

Best Practice Management Guidelines

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


Javaid et al. Orphanet Journal of Rare Diseases


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.


Full article available in PDF format using the link below:


Full Article in PDF format