Liver & intrahepatic bile ducts

Metabolic diseases

Gaucher disease

Last author update: 1 April 2012
Last staff update: 7 February 2023 (update in progress)

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PubMed Search: Liver Gaucher disease

Komal Arora, M.D.
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Cite this page: Arora K. Gaucher disease. website. Accessed February 8th, 2023.
Definition / general
  • Preferable to "Gaucher's disease"
  • Highest risk in Ashkenazi Jews; 1 in 15 are carriers
  • Lysosomal storage disease caused by an autosomal recessive mutation in the β glucocerebrosidase gene (also called glucosylceramidase and β glucosidase)
  • Defective enzyme leads to accumulation of glucocerebroside substrate in cells of the mononuclear phagocyte system, including histiocytes in the spleen, lymph nodes, bone marrow, GI and GU tracts; Kupffer cells in liver; osteoclasts in bone; microglia in CNS; and alveolar macrophages in lungs (Arch Pathol Lab Med 2008;132:851)
Clinical features
  • Three subtypes; all may have hepatosplenomegaly, hypersplenism, osteoporosis, yellow brown skin, anemia (GeneReviews: Gaucher Disease [Accessed 26 October 2017])
    • Type I: nonneuropathic, may be mild
    • Type II (acute infantile neuropathic Gaucher disease): affects infants within a few months of birth, usually fatal within 2 years; may have seizures and dementia
    • Type III: chronic neurological variant, with onset anytime between birth and adulthood, presents with slowly progressing neurological decline; may have seizures and dementia
  • < 15% of mean normal glucocerebrosidase activity in peripheral blood leukocytes is diagnostic
  • Note: enzyme activity in carriers (heterozygotes) is generally half normal but may overlap with healthy controls
  • Molecular analysis, particular in Ashkenazi patients, may also be helpful
Case reports
  • Enzyme replacement therapy with imiglucerase (Cerezyme), a recombinant version of β glucocerebrosidase, for patients with types I or III (Curr Opin Pediatr 2007;19:628)
Microscopic (histologic) description
  • Enlarged Kupffer cells and portal macrophages with "crinkled paper" cytoplasm
Microscopic (histologic) images

Contributed by Komal Arora, M.D.

Various images



Thick section

Electron microscopy description
  • Intralysosomal tubular inclusions
  • Angulated lysosomes
Electron microscopy images

Case #164

Electron microscopy

Differential diagnosis
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