title: Assessment of Bone Health in Patients With Type 1 Gaucher Disease Using Impact Microindentation.
abstract: Gaucher disease (GD), one of the most common lysosomal disorders (a global population incidence of 1:50,000), is characterized by beta-glucocerebrosidase deficiency. Some studies have demonstrated bone infiltration in up to 80% of patients, even if asymptomatic. Bone disorder remains the main cause of morbidity in these patients, along with osteoporosis, avascular necrosis, and bone infarcts. Enzyme replacement therapy (ERT) has been shown to improve these symptoms. This cross-sectional study included patients with type 1 Gaucher disease (GD1) selected from the Catalan Study Group on GD. Clinical data were collected and a general laboratory workup was performed. Bone mineral density (BMD) was measured at the lumbar spine and hip using dual-energy X-ray absorptiometry (DXA). Patients with bone infarcts or any other focal lesion in the area of indentation visible on imaging were excluded. Bone Material Strength index (BMSi) was measured by bone impact microindentation using an Osteoprobe instrument. Analysis of covariance (ANCOVA) models were fitted to adjust for age, sex, weight, and height. Sixteen patients with GD1 and 29 age- and sex-matched controls were included. GD1 was associated with significantly lower BMSi (adjusted beta -9.30; 95% CI, -15.18 to -3.42; p = 0.004) and reduced lumbar BMD (adjusted beta -0.14; 95% CI, -0.22 to -0.06; p = 0.002) and total hip BMD (adjusted beta -0.09; 95% CI, -0.15 to -0.03; p = 0.006), compared to GD1-free controls. Chitotriosidase levels were negatively correlated with BMSi (linear R2= 51.6%, p = 0.004). Bone tissue mechanical characteristics were deteriorated in patients with GD1. BMSi was correlated with chitotriosidase, the marker of GD activity. Bone disorder requires special consideration in this group of patients, and microindentation could be an appropriate tool for assessing and managing their bone health. © 2017 American Society for Bone and Mineral Research.
authors.affiliation: Internal Medicine Department, Hospital del Mar Medical Research Institute (IMIM), Universitat Autònoma de Barcelona and CIBERFES, Barcelona, Spain.
authors.forename: Sabina
authors.initials: S
authors.lastname: Herrera
authors.affiliation: Inborn Errors of Metabolism in Adults, Unit of Rare Diseases, Hospital Valle de Hebron, Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Pérez-López
authors.affiliation: Inborn Errors of Metabolism in Adults, Unit of Rare Diseases, Hospital Valle de Hebron, Barcelona, Spain.
authors.forename: Marc
authors.initials: M
authors.lastname: Moltó-Abad
authors.affiliation: Internal Medicine Department, Hospital del Mar Medical Research Institute (IMIM), Universitat Autònoma de Barcelona and CIBERFES, Barcelona, Spain.
authors.forename: Roberto
authors.initials: R
authors.lastname: Güerri-Fernández
authors.affiliation: Hematology Department, Sant Joan de Deu, Barcelona, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Cabezudo
authors.affiliation: Haematology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Silvana
authors.initials: S
authors.lastname: Novelli
authors.affiliation: Haematology Department, Hospital Clínic de Barcelona, Barcelona, Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Esteve
authors.affiliation: Internal Medicine, Hospital Comarcal Sant Jaume de Calella, Barcelona, Spain.
authors.forename: Albert
authors.initials: A
authors.lastname: Hernández
authors.affiliation: Department of Hematology and Hemotherapy, Corporació Sanitària Parc Taulí, Barcelona, Spain.
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Roig
authors.affiliation: Internal Medicine, Hospital Universitari de Bellvitge, Barcelona, Spain.
authors.forename: Xavier
authors.initials: X
authors.lastname: Solanich
authors.affiliation: National Institute for Health Research (NIHR) Biomedical Research Unit, University of Oxford, Oxford, UK.|GREMPAL, CIBERFES, Barcelona, Spain.
authors.forename: Daniel
authors.initials: D
authors.lastname: Prieto-Alhambra
authors.affiliation: Internal Medicine Department, Hospital del Mar Medical Research Institute (IMIM), Universitat Autònoma de Barcelona and CIBERFES, Barcelona, Spain.
authors.forename: Xavier
authors.initials: X
authors.lastname: Nogués
authors.affiliation: Internal Medicine Department, Hospital del Mar Medical Research Institute (IMIM), Universitat Autònoma de Barcelona and CIBERFES, Barcelona, Spain.
authors.forename: Adolfo
authors.initials: A
authors.lastname: Díez-Pérez
mesh_terms: D000328:Adult; D000368:Aged; D015519:Bone Density; D003430:Cross-Sectional Studies; D005260:Female; D005776:Gaucher Disease / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010024:Osteoporosis / Q000378:metabolism* / Q000473:pathology; D013030:Spain
keywords: ANALYSIS/QUANTITATION OF BONE; DISEASES AND DISORDERS OF/RELATED TO BONE; DXA; IMPACT MICROINDENTATION