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Gaucher disease: Treatment

Derralynn Hughes, MD
Section Editor
Sihoun Hahn, MD, PhD
Deputy Editor
Elizabeth TePas, MD, MS


Gaucher disease (GD) is an inborn error of metabolism that affects the recycling of cellular glycolipids. It results from deficiency of a lysosomal enzyme glucocerebrosidase (also known as glucosylceramide or acid beta-glucosidase, GBA). Glucosylceramide (also called glucocerebroside) and several related compounds that ordinarily are degraded to glucose and lipid components by glucocerebrosidase accumulate within the lysosomes of cells in patients with GD [1].

Treatment of GD is tailored to the individual patient because of the variability in the manifestations, severity, and progression of the disease [2,3]. GD is one of the few inherited metabolic disorders for which enzyme-replacement therapy (ERT) is available [4,5]. Additional therapies include substrate-reduction therapy (SRT) and supportive care measures to manage associated conditions.

The treatment of GD is discussed here. The pathogenesis, genetics, clinical manifestations, diagnosis, initial assessment, and routine monitoring are discussed separately. (See "Gaucher disease: Pathogenesis, clinical manifestations, and diagnosis" and "Gaucher disease: Initial assessment, monitoring, and clinical course".)


The basic goals of treatment are elimination or improvement of symptoms, prevention of irreversible complications, and improvement in the overall health and quality of life [6-8]. An additional goal in children is optimization of growth [7]. An international panel of clinicians with extensive clinical experience in GD has developed a list of therapeutic goals for use as guides for optimal treatment (table 1) [6]. Regular monitoring is performed to assess the response to therapy, make adjustments when goals are not met, and ensure the maintenance of achieved goals (table 2) [7]. The goal of minimal disease activity, based upon the three major systemic domains involved (hematologic, visceral, and skeletal), is another possible treatment target [9]. The frequency of reevaluation depends upon disease severity and should be assessed on an individual basis [10]. (See "Gaucher disease: Initial assessment, monitoring, and clinical course".)

Visceral, hematologic, skeletal, and other aspects of nonneuronopathic disease are considered separately since each of these components is relatively independent of the others with respect to disease burden and response to therapy [7]. Skeletal manifestations are associated with the greatest morbidity and, once present, are among the least responsive to enzyme-replacement therapy (ERT). ERT may slow or prevent progression of skeletal complications, but osteonecrosis, osteosclerosis, and vertebral compression are irreversible. Early treatment may prevent or lessen the severity of these complications, and therefore, early identification is crucial to improving ultimate outcome [11,12]. (See "Gaucher disease: Pathogenesis, clinical manifestations, and diagnosis".)

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Literature review current through: Oct 2017. | This topic last updated: Jul 13, 2015.
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