title: Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status.
abstract: A multicentre, cross-sectional epidemiological survey was conducted to describe the health status of patients with type 1 Gaucher disease (GD1) in Spain. Patient data were collected retrospectively from clinical records. Therapeutic goals for seven clinical parameters were chosen as primary outcome measures. 108 GD1 patients (mean age 44.8 years; 53% male) were recruited from 28 hospitals. Ninety-five patients (88%) were receiving treatment for GD1. Hemoglobin concentration was the therapeutic goal with the highest level of achievement, being met by 105 of 108 patients (97%), followed by the goals for liver volume (86/98 patients; 88%), spleen volume (67/77 patients; 87%) and platelet count (81/108 patients; 75%). The goal for bone mineral density (BMD) was met by 48 of 75 patients (64%), and the goal for quality of life was met by 65 of 103 patients (63%). Bone pain was the parameter with the lowest level of achievement (goal met by 50/94 patients; 53%). The clinical information most often missing from patient records was the BMD Z-score (missing for 31% of patients). These data suggest that most Spanish GD1 patients have good control over hematological and visceral parameters, but there is a need to improve monitoring and treatment of GD-related bone disease.
authors.affiliation: Translational Research Unit, Miguel Servet University Hospital, IIS Aragón, CIBER de Enfermedades Raras (CIBERER), Aragon Institute of Health Sciences (IACS), Zaragoza, Spain; Spanish Foundation for the Study and Therapy of Gaucher Disease (FEETEG), Spain. Electronic address: giraldocastellano@gmail.com.
authors.forename: Pilar
authors.initials: P
authors.lastname: Giraldo
authors.affiliation: Department of Internal Medicine, Vall d'Hebron Hospital, Barcelona, Spain. Electronic address: jordperez@vhebron.net.
authors.forename: Jordi
authors.initials: J
authors.lastname: Pérez-López
authors.affiliation: Department of Hematology, Virgen del Rocío Hospital, Sevilla, Spain. Electronic address: ramirojosenv@gmail.com.
authors.forename: Ramiro
authors.initials: R
authors.lastname: Núñez
authors.affiliation: Department of Internal Medicine, Reina Sofía Hospital, Córdoba, Spain. Electronic address: fdezpuebla@gmail.com.
authors.forename: Rafael Fernández
authors.initials: RF
authors.lastname: de la Puebla
authors.affiliation: Department of Hematology, Central de Asturias Hospital, Oviedo, Spain. Electronic address: eluno@uniovi.es.
authors.forename: Elisa
authors.initials: E
authors.lastname: Luño
authors.affiliation: Department of Medical Oncology, Dr. Negrín Hospital, Las Palmas, Spain. Electronic address: ssauragrau@hotmail.com.
authors.forename: Salvador
authors.initials: S
authors.lastname: Saura-Grau
authors.affiliation: Department of Internal Medicine, Infanta Cristina Hospital, Badajoz, Spain.
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Bureo
authors.affiliation: Medical Affairs, Shire Pharmaceuticals Ibérica, Madrid, Spain. Electronic address: splaza@shire.com.
authors.forename: Sylvia
authors.initials: S
authors.lastname: Plaza
authors.affiliation: Department of Hematology, 12 de Octubre Hospital, Madrid, Spain. Electronic address: drjdelaserna@gmail.com.
authors.forename: Javier
authors.initials: J
authors.lastname: de la Serna
mesh_terms: D000328:Adult; D015519:Bone Density; D001847:Bone Diseases / Q000209:etiology; D003430:Cross-Sectional Studies; D005260:Female; D005776:Gaucher Disease / Q000097:blood / Q000150:complications* / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010976:Platelet Count; D011788:Quality of Life; D013030:Spain / Q000453:epidemiology; D013154:Spleen / Q000473:pathology
keywords: Bone disease; Spain; Therapeutic goals; Type 1 Gaucher disease