From the Research
Fibrous dysplasia typically presents with bone pain, deformity, and pathologic fractures, and its management should prioritize the use of intravenous bisphosphonates, such as pamidronate or zoledronic acid, to reduce bone pain and improve bone strength, as supported by the most recent and highest quality study 1.
Clinical Presentation
Fibrous dysplasia can affect any bone but commonly involves the skull, femur, tibia, ribs, and facial bones. Patients may be asymptomatic with lesions discovered incidentally on imaging, or they may present with:
- Pain
- Swelling
- A limp if weight-bearing bones are affected
- Craniofacial involvement can cause facial asymmetry, vision changes, hearing loss, or nasal obstruction
- In children, the condition may manifest as limb length discrepancies or progressive deformities
Radiographic Findings
Radiographically, fibrous dysplasia appears as a well-defined "ground glass" lesion with thinning of the cortex.
- The polyostotic form affects multiple bones and may be associated with McCune-Albright syndrome, which includes café-au-lait skin pigmentation and endocrine abnormalities like precocious puberty
- Monostotic fibrous dysplasia affects a single bone and is generally less severe
Pathophysiology and Diagnosis
The condition results from activating mutations in the GNAS gene, leading to abnormal osteoblast differentiation and production of disorganized fibro-osseous tissue that replaces normal bone.
- Diagnosis typically requires correlation of clinical, radiographic, and sometimes histopathologic findings
- The use of bisphosphonates, such as pamidronate or zoledronic acid, has been shown to be effective in reducing bone pain and improving bone strength, as supported by studies 2, 1, 3
Management
Intravenous bisphosphonates, such as pamidronate or zoledronic acid, should be considered as a first-line treatment for fibrous dysplasia, particularly for patients with severe bone pain and deformity, as they have been shown to reduce bone pain and improve bone strength 1, 3.