title: Gaucher disease: the role of the specialist on metabolic bone diseases.
abstract: According to European legislation, a disease can be considered rare or "orphan" when it affects less than 1 subject of 2000 (1). Often these diseases affecting the pediatric age, are complex diseases and chronically debilitating and for this motive need the intervention of multidisciplinary skills specific. Among the rare disease as affecting the skeleton more than 400 are characterized by dysplastic changes of the skeleton (2). Alongside the disorders affecting the skeleton primitively, many systemic diseases can have a bone involvement. Among these, the Gaucher disease (GD), an heterogeneous lysosomal storage determined by hereditary enzyme deficiency of β-glucosidase. Patients with this disease have skeletal disorders of varying severity (Erlenmeyer flask deformity, lytic lesions and osteonecrosis, pathological fractures) that affects both the bone marrow, both mineralized bone with progressive damage of the tissue. The bone disease is the most debilitating of GD and can have a significant impact on the quality of life of patients. Thorough evaluations by monitoring biochemical markers of bone turnover and instrumental, with a quantitative and qualitative evaluation of the bone, are of fundamental importance to intervene early so they can prevent complications irreversible.
authors.affiliation: Metabolic Bone Diseases Unit, University Hospital AOU-Careggi, Florence, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Masi
authors.affiliation: Metabolic Bone Diseases Unit, Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Brandi
keywords: Bone Mineral Density (BMD); Gaucher disease; avascular bone necrosis; bone crisis; multidisciplinary; osteomyelitis; osteoporosis