title: [Therapeutic objectives in Gaucher disease].
abstract: Evidence-based therapeutic goals have been developed by European and North American experts in the field of Gaucher disease (GD, lysosomal acid beta glucosidase deficiency, OMIM 230 800) in an attempt to reverse the entire disease phenotype, improve quality of life and prevent life-threatening complications. Patients with GD usually have maximal clinical benefit when enzyme replacement treatment (ERT) efficiency is administered at the optimal time i.e. generally during the asymptomatic phase of the disease. Currently, imiglucerase is the standard of care for type 1 GD due to its high efficiency at improving bleeding tendencies, anemia, reversing heptosplenomegaly 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 GD is a lifelong treatment that patients should not interrupt without a careful monitoring of the disease evolution.
authors.affiliation: Yale University School of Medicine, Internal Medicine, 333, Cedar Street, CT 06520, New Haven, USA.
authors.forename: P
authors.initials: P
authors.lastname: Mistry
authors.forename: D P
authors.initials: DP
authors.lastname: Germain
mesh_terms: D017485:1-Deoxynojirimycin / Q000008:administration & dosage / Q000031:analogs & derivatives / Q000627:therapeutic use; D000328:Adult; D002648:Child; D002986:Clinical Trials as Topic; D004791:Enzyme Inhibitors / Q000008:administration & dosage / Q000627:therapeutic use; D019317:Evidence-Based Medicine; D005260:Female; D005776:Gaucher Disease / Q000145:classification / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D005962:Glucosylceramidase / Q000008:administration & dosage / Q000627:therapeutic use; D065089:Glycoside Hydrolase Inhibitors; D006801:Humans; D008297:Male; D010641:Phenotype; D011788:Quality of Life; D011994:Recombinant Proteins / Q000008:administration & dosage / Q000627:therapeutic use; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D004791:Enzyme Inhibitors; D065089:Glycoside Hydrolase Inhibitors; D011994:Recombinant Proteins; D017485:1-Deoxynojirimycin; C070292:alglucerase; C059896:miglustat; D005962:Glucosylceramidase; C090568:imiglucerase