Therapeutic goals in the treatment of Gaucher disease.
Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer from hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, growth retardation, pulmonary disease, and decreased quality of life. Enzyme replacement therapy (ERT) with mannose-terminated glucocerebrosidase reverses or ameliorates many of the manifestations of type 1 Gaucher disease. However, the variable disease pattern and severity, and the uncertain manner of progression, render the decision to initiate ERT difficult. Thus, implementation of treatment and evaluation of the therapeutic response must be tailored to the individual patient. To obtain an evidence-based consensus on contemporary therapeutic goals, an international panel of physicians with extensive clinical experience in Gaucher disease met to review the extant literature on its treatment. The panel adopted an integrated system-based approach to arrive at a comprehensive guide to individualized management. Here we establish goals of treatment in Gaucher disease and propose a comprehensive schedule of monitoring of all relevant aspects to confirm the achievement, maintenance, and continuity of the therapeutic response.
Neurology in Pediatrics, Neurgenetics Unit, Department of Neurology, New York University School of Medicine, NY, USA.
Gregory M
GM
Pastores
Neal J
NJ
Weinreb
Hans
H
Aerts
Generoso
G
Andria
Timothy M
TM
Cox
Manuel
M
Giralt
Gregory A
GA
Grabowski
Pramod K
PK
Mistry
Anna
A
Tylki-Szymańska
D057487:Enzyme Therapy; D019317:Evidence-Based Medicine; D005776:Gaucher Disease / Q000150:complications* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D017410:Practice Guidelines as Topic; D011788:Quality of Life; D016896:Treatment Outcome; D004798:Enzymes
D004798:Enzymes