Quality of life related to type 1 Gaucher disease: Spanish experience

Abstract

The impact of type 1 Gaucher disease and its therapy on health-related quality of life (QOL) was investigated and the results were compared with a Spanish adult normative group. Patients and Methods: Between January 1998 and December 2002, a prospective clinical QOL trial was conducted by application of a Spanish version of the Health Survey SF-36 questionnaire. Patients receiving ERT (69 cases) filled in the questionnaire two times, prior to starting ERT and after two years under ERT. The patients were stratified by gender and age group. Clinical and X-ray data to assess bone disease were obtained from the Spanish Gaucher Register. Demographic, clinical, genotype and analytical data and the response to therapy were evaluated. Four grades of severity were established according to bone disease (no symptoms=0, moderate bone pain=1, severe bone crisis=2, fracture/necrosis=3). Correlation analysis was made between QOL score and grade of bone disease. Results: Mean age ± SD 33.6 ± 11.7 (range 18–66), M/F ratio 33/36; bone disease: 0 in 27 patients (47.3%), 1 in 11 (19.3%), 2 in 5 (8.8%) and 3 in 14 (24.5%). Physical activity: 11 patients (19.3%) showed severe restriction and 41 patients (71.9%) were only limited for strenuous activities. The mean score for QOL questionnaire was 11.9 ± 10.4 (range 2–46). Correlation between score and bone disease was significant only for 1 and 3 grades (p=0.02). Improvement in self perception of global health was observed ranging from 34.3% before ERT to 91.4% after ERT ( p=0.001). Nevertheless physical activity remained unsatisfactory in 24.5% of patients due mainly to bone sequelae. Comments: Physical activities and bone disease grade 1 and 3 are negatively related to QOL. Nevertheless no correlation was found with bone pain crisis, possibly due to the transitory character of this event. In spite of the improvement induced by ERT, a quarter of patients remained with physical limitations related to bone disease as well as in need of orthopaedic correction of bone sequelae. In order to improve the QOL an accurate evaluation of bone disease to define therapeutic approaches must be considered.