Gaucher disease

Eliyakim Hershkop, Alina Kurolap, Hagit Baris Feldman*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


In this chapter we discuss Gaucher disease (GD) with an emphasis on liver manifestations and clinical implications. GD is the most common lysosomal storage disease, resulting from dysfunction of the enzyme glucocerebrosidase (GCase), and leading to lipid accumulation in lysosomes. GD is an autosomal recessive disease caused by pathogenic variations in the GBA gene. The most common features of GD are hepatosplenomegaly, cytopenia and bone disease. The incidence of GD worldwide is 1/40,000-1/60,000 live births. There are three main GD types: type 1 is the most common and considered "non-neuronopathic", type 2 is the acute neuronopathic type and the most severe with demise in early infancy, and type 3 is the chronic neuronopathic type. Although GD is pan-ethnic, type 1 has a particularly high prevalence in Ashkenazi Jews. Topics covered in this discussion include background on lysosomal storage disorders, followed by a focus on GD, primarily type 1, including: history, genetics, epidemiology, pathophysiology, classification, diagnosis, surveillance and guidelines for evaluating GD patients and their liver involvement. Finally, we discuss principles of management and treatment options for GD patients to facilitate timely diagnosis and patient care by the primary care physician.

Original languageEnglish
Title of host publicationChronic Disease and Disability
Subtitle of host publicationThe Pediatric Liver
PublisherNova Science Publishers, Inc.
Number of pages22
ISBN (Electronic)9781536177510
ISBN (Print)9781536177503
StatePublished - 1 Jun 2020


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