Elucidating Mechanisms of Pain in Adolescent and Adult Fibrous Dysplasia Patients

In Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS), healthy bone tissue and marrow is replaced with pre-osteoblastic, fibrous tissue, yielding skeletal deformities and an increased propensity towards fracture, musculoskeletal weakness and bone pain. Despite the frequent use of pharmacological and non-pharmacological analgesic strategies, pain in FD remains common and frequently debilitating, particularly during adulthood. Moreover, for many patients there is a discordance between perceived pain levels and detectable musculoskeletal pathology. To elucidate the mechanism underlying pain in FD/MAS patients, investigators at the National Institute of Dental and Craniofacial Research (NIDCR), National Center for Complementary and Integrative Heath (NCCIH) and Boston Children's Hospital (BCH) aim to probe three inter-related domains that are projected to underlie pain experience(s) in FD/MAS patients. These include (i.) the presence of maladaptive central nervous system processes that amplify afferent pain or somatosensory signals, and also facilitate persistent pain; (ii.) aberrant interplay between neurological and musculoskeletal systems; (iii.) a mental health status shaped by the overall burden of living with FD and (iv.) the influence of childhood, FD-related complications on adulthood pain phenotypes. To investigate these four domains hypothesized to underlie FD pain as well as inform on the disconnect between pain and FD disease burden, the investigators will employ methods that complement routine clinical evaluation and diagnostic tests (i.e., 18F-NaF PET/CT or 18F-FDG PET/CT) such as neuroimaging, musculoskeletal MRI and such as neuroimaging, musculoskeletal MRI and assessment of inflammatory and pain mediator expression in blood samples.