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Gaucher disease: Initial assessment, monitoring, and clinical course

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

INTRODUCTION

Gaucher disease (GD) is an inborn error of metabolism that affects the recycling of cellular glycolipids. GD is one of the most common lysosomal storage diseases. Glucocerebroside (also called glucosylceramide) and several related compounds that ordinarily are degraded to glucose and lipid components accumulate within the lysosomes of cells.

GD is categorized into three clinical types. The disease involves the visceral organs, bone marrow, and bone in all affected patients. Type 1 (GD1, MIM #230800) is the most common. It is distinguished from type 2 (GD2, MIM #230900) and type 3 (GD3, MIM #231000) by the lack of characteristic involvement of the central nervous system (CNS).

Additional resources for information about GD for patients and families are listed in the table (table 1). Guidelines for the evaluation and monitoring of children and adults with GD, based upon data from the International Collaborative Gaucher Group (ICGG) Registry and published data from international consensus panels, are incorporated into the discussion in this topic [1-7].

The initial assessment and routine monitoring of patients with GD will be discussed here. The pathogenesis, genetics, clinical manifestations, diagnosis, and treatment are discussed separately. (See "Gaucher disease: Pathogenesis, clinical manifestations, and diagnosis" and "Gaucher disease: Treatment".)

INITIAL ASSESSMENT

Each patient should undergo a comprehensive initial assessment of all potentially-affected organ systems, since there is significant variability in the manifestations, severity, and progression of Gaucher disease (GD) that will impact treatment options (table 2) [8]. A decision is made regarding whether enzyme-replacement therapy (ERT) is indicated after the extent of symptoms and rate of progression are established. Treatment is then individualized to achieve specific therapeutic goals (table 3) [9]. (See "Gaucher disease: Treatment".)

                    

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Literature review current through: Nov 2016. | This topic last updated: Mon Mar 16 00:00:00 GMT 2015.
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