Liver & intrahepatic bile ducts nontumor
Metabolic diseases
Niemann-Pick disease


Topic Completed: 1 April 2012

Minor changes: 6 March 2020

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PubMed Search: Niemann-Pick disease[TI] liver[mh]


Komal Arora, M.D.
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Cite this page: Arora K. Niemann-Pick disease. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/liverniemannpick.html. Accessed July 4th, 2020.
Definition / general
  • Autosomal recessive lysosomal storage disease clinically characterized by neurodegeneration and liver disease (Wikipedia: Niemann-Pick Disease [Accessed 27 October 2017])
  • Mutations in the NPC1 and NPC2 genes cause impaired egress of free cholesterol from lysosomes, leading to accumulation of cholesterol and glycosphingolipids
Microscopic (histologic) description
  • Foamy Kupffer cells and hepatocytes
Microscopic (histologic) images

Hepatocytes and Kupffer cells have a foamy, vacuolated appearance due to deposition of lipids

Electron microscopy description
  • Intralysosomal myelin-like inclusions
Additional references
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