Small intestine & ampulla



Topic Completed: 1 August 2012

Minor changes: 18 November 2020

Copyright: 2003-2021,, Inc.

PubMed Search: Abetalipoproteinemia small bowel

Hanni Gulwani, M.B.B.S.
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Cite this page: Gulwani H. Abetalipoproteinemia. website. Accessed October 15th, 2021.
Definition / general
  • Rare; due to mutations in MTP gene encoding microsomal triglyceride transfer protein (MTP); autosomal recessive (Ann Hepatol 2011;10:221)
  • Causes defect in synthesis and export of apoprotein B from intestinal mucosal cells
  • As a result, free fatty acids and monoglycerides cannot be assembled into chylomicrons and become triglycerides stored within cells, causing lipid vacuolization
  • Symptoms: failure to thrive, diarrhea, steatorrhea
  • Lipid profile shows no chylomicrons, no VLDL, no LDL
  • CBC smear shows acantholytic red blood cells (burr cells) due to lipid membrane abnormalities
Microscopic (histologic) description
  • Marked fat vacuoles in apical villous cytoplasm, normal villi
Positive stains
  • Fat stains highlight lipid vacuoles
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