Intravenous enzyme replacement therapy: hospital vs home.

Two surveys were carried out to establish the status of enzyme replacement therapy (ERT) for lysosomal storage diseases in Italy. The first was a national survey covering the regional reference centres (RRCs) for these diseases; replies disclosed that 57.7% of patients are on ERT, administered almost exclusively in hospital settings (local hospital 60.7%, RRC 34.8%, home 2.6%); Italian health service procedures do not support ERT at home. The second survey was a regional survey in Lombardy, involving 48 patients (six of whom were on ERT at home). According to 40% of the patients, hospital-based ERT is disruptive, causing loss of days at school/work, stress and family issues. The patients on home therapy did not have these problems. However, 93% of patients receiving ERT in hospital perceived the advantages of greater safety, closer monitoring and more support from health professionals and experts. A total of 55% were willing to receive ERT at home, but 33% were against it. This may be the result of a lack of experience with ERT at home in Italy, or because of different opinions between family members and physicians. As international experience shows that ERT at home saves healthcare resources and improves quality of life, the issue should be raised with Italian healthcare policy makers, who should ensure nursing support for home-based ERT.

Use of complementary and alternative medicine by patients with lysosomal storage diseases.

PURPOSE: To evaluate the extent of complementary and alternative medicine use and perceived effectiveness in patients with lysosomal storage diseases. METHODS: A 26-item survey was distributed to 495 patients with type 1 Gaucher, Fabry, and type B Niemann-Pick diseases who were seen at the Lysosomal Storage Disease Program at the Mount Sinai School of Medicine. Survey responses were entered into an access database and analyzed using descriptive statistics. RESULTS: Surveys were completed by 167 respondents with an overall response rate of 34%. Complementary and alternative medicines were used by 45% of patients with type 1 Gaucher disease, 41% of patients with Fabry disease, and 47% of patients with type B Niemann-Pick for symptoms related to their disease. Complementary and alternative medicines were used most frequently by adult females (55%), in patients who reported having one or more invasive procedures due to their disease, patients who use one or more conventional medical therapies, or those with depression and/or anxiety. Overall perceived effectiveness of complementary and alternative medicine supplements was low; however, complementary and alternative medicine therapies were perceived as effective. CONCLUSION: Complementary and alternative medicines are commonly used among patients with lysosomal storage diseases. Assessment of the effectiveness of these approaches in the lysosomal storage diseases is needed, and physicians should be aware of complementary and alternative medicine therapies used by patients to evaluate safety and possible drug interactions.