Fibrous dysplasia/McCune Albright syndrome

Abstract

Fibrous dysplasia/McCune Albright syndrome (FD/MAS) is a rare bone disorder caused by a post-fertilization mutation of the GNAS gene that leads to overactivity of that gene in a range of tissues including skeletal, endocrine and skin. Diagnosis is principally clinical and radiological confirmation. The variable multisystem involvement with different complications requires a holistic approach to assessment and management across the lifecourse including screening for potential complications due to endocrine hyperfunction. At present, there is no effective targeted therapy. From an orthopaedic perspective, fractures, deformity and bone pain are common and require specialized approaches from both medical and surgical perspectives. For incomplete fractures, radiographs and CT are preferred over MRI. For bone pain, while there is no supportive clinical trial evidence, a trial of intravenous bisphosphonates are recommended. Key to patient care is involvement with the UK national Fibrous Dysplasia Support Society to provide peer to peer support.