Background

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare and complex condition caused by somatic variants in the GNAS gene, leading to a wide clinical spectrum. The diagnostic process and therapeutic pathways vary across centers, highlighting the need for international harmonization of data collection.

Objective

To understand the diagnostic pathways and clinical outcomes of patients with FD/MAS reported on an electronic-reporting tool (e-REC) across European centers, aiming to guide the development of a condition-specific module within the European Registries for Rare Endocrine and Bone Conditions.

Design and Methods

Centers that reported new cases on e-REC between October 2019 and May 2021 were approached to complete a survey in May 2021. A total of 58 cases were included in the study.

Results

• Median age at presentation was 20 years (range 0–72).

• Presentation types: isolated craniofacial FD in 19 cases (33%), monostotic FD in 15 (26%), polyostotic FD in 10 (17%), and MAS in 13 (13%).

• Standardized questionnaires to assess pain and quality of life were routinely used in 21 out of 58 patients (36%).

• The majority of patients had more than one healthcare provider, with significant diversity in the specialty of the coordinating physician.

• A standardized dataset module for FD/MAS was developed through collaboration with the FD/MAS study group, incorporating expert consensus and clinical insights. Key variables were identified to capture essential diagnostic, clinical, and patient-reported outcomes.

Conclusion

The diagnostic pathways for patients with FD/MAS across European expert centers are variable. The outcomes of this study facilitated the development of the first international FD/MAS-specific data collection module, aiming to standardize data collection and improve understanding of the natural history of FD/MAS.derscore the need for standardized guidelines regarding the initiation and duration of thromboprophylaxis in CS management. Prospective trials are warranted to establish optimal strategies for VTE prevention in this high-risk population.

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