Small bowel (small intestine)

Author: Hanni Gulwani, M.D. (see Authors page)

Revised: 9 February 2018, last major update August 2012

Copyright: (c) 2003-2018,, Inc.

PubMed Search: Abetalipoproteinemia small bowel

Cite this page: Gulwani, H. Abetalipoproteinemia. website. Accessed September 25th, 2018.
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