RT Journal Article
T1 Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status.
A1 Giraldo, Pilar
A1 Pérez-López, Jordi
A1 Núñez, Ramiro
A1 de la Puebla, Rafael Fernández
A1 Luño, Elisa
A1 Saura-Grau, Salvador
A1 Bureo, Juan Carlos
A1 Plaza, Sylvia
A1 de la Serna, Javier
K1 Bone disease
K1 Spain
K1 Therapeutic goals
K1 Type 1 Gaucher disease
AB 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.
YR 2015
FD 2015-10-09
LK http://hdl.handle.net/10668/9633
UL http://hdl.handle.net/10668/9633
LA en
DS RISalud
RD Apr 11, 2025