THE IMPACT OF GAUCHER-DISEASE AND ITS TREATMENT ON QUALITY-OF-LIFE

To obtain information about how Gaucher disease and its treatment, spe cifically enzyme replacement therapy, affect patients' health-related quality of life (HRQoL), we interviewed 16 patients with type Gaucher disease (range 8-67 years). All but three patients had been receiving enzyme replacement therapy for at least 6 months, The quality of life factors examined for these patients included physical health, social l ife, emotional health, financial burden, future plans and satisfaction with health care, The results indicated that bone pain and chronic fa tigue interfered with school, job and social activities and were the m ost debilitating symptoms of Gaucher disease, Most patients experience d a significant increase in energy level from therapy and reported sig nificant improvements in quality of life, Most patients did not percei ve an effect of Gaucher disease on their overall emotional health, but some patients expressed anxieties about the discomfort, inconvenience and high costs of therapy, We conclude that a measure of HRQoL for Ga ucher patients should include a generic core of items supplemented by disease-specific items designed to assess the changes in symptoms and in the occupational, recreational, social and emotional aspects of pat ients' lives that occur as a result of disease progression and/or mana gement, Qual. Life Res. 7:521-534 (C) 1998 Kluwer Academic Publishers.