Update On The Medical Management Of Fibrous Dysplasia Of The Bone

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: McCune-Albright syndrome; bisphosphonates; fibrous dysplasia; metabolic bone disease; pain management.

Radiologic imaging of fibrous dysplastic… Radiologic imaging of fibrous dysplastic bone. (a) Craniofacial CT scan of a 33-year-old… Hormone signaling in multiple organ systems have been found to impact FD lesion… Fibrous dysplasia is a benign condition that is characterized by the inability of bone-forming tissue to produce mature lamellar bone, creating a radiolucent lesion of immature bone within the medullary canal of the affected... Typically occurring in the long bones, this process can lead to pathologic fractures, debilitating pain, and malignant transformation and may be associated with Mazabraud syndrome, severe polyostotic disease, and McCune-Albright syndrome.

Fibrous dysplasia can be treated most effectively if caught early with nonsurgical diphosphonate therapy, which has been shown to improve cortical thickness and reduce pathologic fractures. Conversely, in those with higher disease burden, surgery can prove beneficial, albeit difficult. Current literature suggests that although bone grafting may be an option, it does not necessarily provide long-term stability, particularly for patients younger than 18 years. Studies tracking long-term follow-up showed 75% of various grafts, including but not limited to struts, bone chips, and freeze-dried grafts, had failed to incorporate and had been resorbed. Furthermore, studies showed patients treated with strut allografts found a 54% revision-free survival after 20 years, demonstrating it as a viable option in treatment of proximal femoral disease. Perhaps the most challenging complication, the shepherd's crook, was shown to be treated with 71% revision-free success with angled blade plates and had 91% of patients walking pain-free.

Moreover, success has been found with an intertrochanteric valgus osteotomy and fixation with an angled blade plate followed by stabilization with a cephalomedullary nail. Although recent studies have shown promise, additional long-term follow-up will need to be done to confirm improvement of both deformity and functional status. Copyright © 2025 by the American Academy of Orthopaedic Surgeons. Our research integrity and auditing teams lead the rigorous process that protects the quality of the scientific record Therapeutic Advances in Endocrinology and Metabolism (Jun 2025) 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 G s α 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...

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