Therapeutic goals in Gaucher disease.
Evidence-based therapeutic goals have been developed by several European and American experts in Gaucher disease in order to attempt to reverse the entire Type 1 Gaucher phenotype, prevent complications, improve quality of life and prevent life-threatening complications. Patients with Gaucher disease will benefit by maximum enzyme replacement treatment (ERT) efficiency if it is given at the optimal time i.e. generally during the asymptomatic phase of the disease. Currently, Cerezyme is the standard of care for all severities of type 1 Gaucher disease due to its high efficiency at ameliorating bleeding tendencies, reversing organomegaly and part of skeletal damages and eliminating bone crises. ERT has also demonstrated a remarkable safety profile with tolerability at 3 years greater than 99%. Treatment of Gaucher disease is a long-life treatment that the patient should not interrupt without a careful monitoring of the disease evolution.
Mistry
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Yale University School of Medicine, Internal Medicine, New Haven, CT 06520, USA.
Germain
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DP
D017485:1-Deoxynojirimycin / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D019317:Evidence-Based Medicine; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics / Q000601:surgery; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000627:therapeutic use*; D065089:Glycoside Hydrolase Inhibitors; D006801:Humans; D007275:Injections, Intravenous; D010641:Phenotype; D011788:Quality of Life; D011994:Recombinant Proteins / Q000008:administration & dosage / Q000627:therapeutic use; D013156:Splenectomy; D013163:Splenomegaly / Q000188:drug therapy / Q000209:etiology / Q000601:surgery; D013997:Time Factors
D065089:Glycoside Hydrolase Inhibitors; D011994:Recombinant Proteins; D017485:1-Deoxynojirimycin; C059896:miglustat; D005962:Glucosylceramidase; C090568:imiglucerase