CE: Understanding the Nurse's Role in Managing Gaucher Disease.

: Lysosomal storage disorders (LSDs) are a group of inherited metabolic conditions, the overall incidence of which is estimated to range from one in 5,000 to one in 7,000 live births. Gaucher disease, the most common LSD, is of autosomal recessive inheritance. It results from a deficiency of acid ß-glucocerebrosidase and can affect the spleen, liver, bone, bone marrow, and central nervous system. Gaucher disease is clinically classified into one of three phenotypes, depending on the absence or presence of neurodegenerative disease and the rate of disease progression. Although there is no cure for Gaucher disease, it may be treated with enzyme replacement and substrate reduction therapy. With the development of enzyme testing through dried blood spots, Gaucher disease may now be detected at birth through newborn screening. The purpose of this article is to review the epidemiology and pathophysiology of Gaucher disease, update nurses on advances in newborn screening, diagnosis, and management of this genetic disorder, and highlight the role of nurses in the diagnosis and care of patients with Gaucher disease.

Intravenous enzyme replacement therapy: better in home or hospital?

This article evaluates satisfaction with enzyme replacement therapy (ERT) at home and at hospital in adult patients with Fabry and Gaucher diseases. A questionnaire was developed and sent to 34 patients with Fabry disease who were receiving ERT with agalsidase alfa (Replagal) and to 49 patients with type I Gaucher disease who were receiving ERT with glucocerebrosidase (Cerezyme). Of the 45 returned questionnaires, 20 were from patients with Fabry disease and 25 from patients with Gaucher disease. Hospital treatment visits were reported as stressful by 18 patients (40%), whereas only 4 (9%) patients reported that home therapy was stressful. Both groups of patients adjusted well to receiving home-based therapy. Nearly all of the patients with Fabry disease (19 patients, 95%) and Gaucher disease (21 patients, 84%) preferred home-based therapy. Treatment in the home was reported as more comfortable, less stressful, more effective and had less impact on family life. Only 4 (9%) patients chose to continue receiving infusions in hospital. The majority of patients with Fabry disease and Gaucher disease found home-based therapy to be more convenient and less stressful than hospital-based therapy.

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.