News advances in the knowledge of natural history of the fibrous dysplasia Silvina Mastaglia, Diana González, Beatriz Oliveri
Authors: Silvina R. Mastaglia, Diana C González, Beatriz Oliveri
Abstract
Fibrous dysplasia (FD) is an infrequent, non-hereditary bone disease caused by a somatic mutation of the GNAS gene, responsible for encoding the a-subunit of the G-protein (Gsa). The clinical presentation of the disease varies greatly, with some patients being asymptomatic and others markedly symptomatic. The exhaustive analysis of the database from patients with FD has allowed to learn more about the natural history of this disease. This article reviews the current information available on the clinical utilityof bone markers, the prognostic factors for the occurrence of fractures, the evidence supporting as a predisposing condition for the development of specific tumors, new perspectives on the pathophysiology of bone pain, and emerging therapeutic strategies. A greater understanding of the natural history of this disease will allow to make better medical decisions, which will ultimately contribute to improve FD patients quality of life.
Key words: fibrous dysplasia, natural history of the disease, bone.
