Abstract
Gaucher disease, a lysosomal storage disorder, is a multisystem disorder with variable and unpredictable onset and severity. Disease-specific enzyme replacement therapy (ERT) has been shown to reverse or ameliorate disease-specific hepatosplenomegaly and anemia and thrombocytopenia. ERT also impacts bone manifestations, including bone crises, bone pain, and appearance of new osteonecrosis, and improves bone mineral density to varying degrees. The objective of this study was to assess achievement of predefined therapeutic goals based on international registry outcomes for Israeli patients with Gaucher disease receiving imiglucerase for four consecutive years on a low-dose regimen followed in a single center. All data were taken from patient files. The therapeutic goals were taken from standards published in the literature for disease-specific clinical parameters. Among 164 patients at baseline, values for spleen and liver volumes, hemoglobin and platelet counts, and Z-scores for lumbar spine and femoral were significantly different from the goal. After four years ERT, there was a significant improvement (P = 0.000) in each of the therapeutic goal parameters from baseline. 15.2% of these patients achieved all hematology-visceral goals. In children, there was achievement of linear growth and puberty. This survey highlights the good overall response in symptomatic patients receiving low-dose ERT with imiglucerase in Israel.
Highlights
Gaucher disease, a prevalent lysosomal storage disorder, is a multisystem disorder with variable and unpredictable onset and severity especially in the common nonneuronopathic form [1]
There were 164 patients who met the criteria for inclusion; that is, they had been receiving a constant dose for approximately four years from advent of enzyme replacement therapy (ERT)
Summary
A prevalent lysosomal storage disorder, is a multisystem disorder with variable and unpredictable onset and severity especially in the common nonneuronopathic form [1]. Patients with nonneuronopathic (type 1) Gaucher disease may suffer from varying degrees of splenomegaly, hepatomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, growth retardation in children, and/or pulmonary disease; invariably, health-related quality of life is affected. Disease-specific enzyme replacement therapy (ERT) with mannose-terminated glucocerebrosidase (alglucerase, Ceredase, Genzyme Corporation, Cambridge, MA, USA) was introduced in 1991 [2]. A recombinant enzyme (imiglucerase, Cerezyme, Genzyme Corporation, Cambridge, MA) superseded the placental product [3, 4] and has been shown to reverse or ameliorate many of the visceral and hematological manifestations of Gaucher disease. Due to the variable patterns of onset, progression, and severity, the initiation of Advances in Hematology treatment and the evaluation of the therapeutic response have often been controversial [6]
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