FD/MAS is a rare disease - estimated to affect 1 in 5,000β10,000 people. Most clinicians encounter it just a few times in their careers, and current guidelines (Leiden, Sapienza, UCSF, FD/MAS Alliance) don't reach everywhere right away. As a result, the proposed treatment plan can vary significantly depending on the centre and the specialist a family first reaches.
Before we reached the correct diagnosis and a conservative care plan for our son, we went through a long road: consultations at several Polish and international centers, the GNAS mutation test in KrakΓ³w, histological verification at Sapienza, and a clinical plan at Leiden. Each stage taught us something - but reaching an FD specialist took time that families with a fresh diagnosis usually don't have.
We build this list to shorten that road for other families - so they can reach clinicians who have prior FD/MAS experience and know the current recommendations sooner.
Disclaimer: The list is informational only and is not a recommendation of any particular clinician. Information about clinicians comes from public medical registers and the official websites of clinics where they practice. Any clinician can request an update or removal of an entry by writing to kontakt@genequest.org.
Leiden University Medical Center, Netherlands
FD/MAS specialist with many years of clinical experience. Director of the International FD/MAS Consortium. Treats patients within the ERN BOND (European Reference Network for Rare Bone Diseases) referral center. Specializes in a conservative approach - observation, pharmacotherapy, deferring surgery in children.
π lumc.nl
Sapienza University, Rome, Italy
Professor of Pathology in the Department of Molecular Medicine. A globally significant expert on FD histopathology. Co-author of key publications on FD pathology and differentiation from other bone lesions. Performs histological verifications of biopsy samples suspicious for FD.
π uniroma1.it
UCSF (University of California, San Francisco), USA
Bone biologist at UCSF Bone Biology. Leads a research program on targeted therapies for FD. Member of the FD/MAS Alliance Scientific Advisory Board.
π endocrine.ucsf.edu
We have identified several clinicians in Poland who have treated FD/MAS patients - in Olsztyn, PoznaΕ, and Zielona GΓ³ra. We are currently contacting each of them to confirm the entry content and obtain consent. Full doctor cards will appear here within the next few weeks.
If you urgently need a clinician near a specific city - write to us. After a short conversation we can share a specific name and contact, and help establish initial contact.
The documents below are intended for a conversation with the treating physician, not for self-application. Every FD/MAS case requires individual evaluation by a clinician experienced with this disease.
Javaid M.K., Boyce A., Appelman-Dijkstra N., β¦, Collins M.T. (2019). "Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium", Orphanet Journal of Rare Diseases, 14(139). Open-access. A consensus of 51 experts from 13 countries, cited by Leiden, Sapienza, and UCSF as the foundation of contemporary clinical care.
Open publication (Orphanet J Rare Dis) β
Plus a patient-facing page with flowcharts: FD/MAS Alliance Treatment Guide
The FD/MAS Alliance publishes specific flowcharts based on the Consortium guidelines:
The FD/MAS Alliance maintains a global directory of clinicians experienced with FD/MAS - particularly helpful if you are looking for an international consultation or a second opinion from another center.
The FD/MAS Alliance runs a "Faces of FD/MAS" series in which patients share their long-running life stories with the disease. After a fresh diagnosis it helps to see a multi-decade perspective - e.g. Dennis Thomsen's story.
We are working on a Polish version of the flowcharts: a diagnostic path with ICD-10 codes, Polish genetic laboratories performing the GNAS test, referral centers, NFZ reimbursement paths. This is the first concrete use case for our Live Guidelines platform - clinical guidelines that update as new publications appear.