Gaucher's disease: a pilot study of the symptomatic responses to enzyme replacement therapy

Symptomatic responses to enzyme replacement therapy were studied in 12 patients with an inherited lipid storage disorder (Type 1 Gaucher's disease) in order to determine the impact of treatment on perceptions of well being. Before each intravenous infusion of enzyme, patients were asked to comment on the presence or absence of disease-specific symptoms presented in questionnaire format. Symptoms were grouped into five major categories: bleeding abnormalities, chronic fatigue, gastrointestinal complaints, bone pain and psychosocial function. Each reported symptom was discussed in detail with the clinic nurse coordinator and documented in the medical record. After six months of enzyme replacement therapy, each patient's chart was reviewed and changes in the frequency of disease-specific symptoms over time were evaluated. The major subjective changes included a decrease in the frequency and severity of nosebleeds, reduced bruising, increased vigor and energy level, visible reduction in abdominal girth, increased self-esteem and enhanced self-image. Patients frequently described relief of their symptoms well before changes were confirmed by objective laboratory measurements. These observations may prove useful in the comprehensive management of patients with Gaucher's disease as they recover from a chronic, debilitating illness while receiving enzyme replacement therapy. The extent and ease with which these patients can achieve a state of normal, healthy function is unknown at the present time and will require further study.