Small bowel (small intestine)
Reviewer: Hanni Gulwani, M.D. (see Reviewers page)
Revised: 14 December 2012, last major update August 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.
● 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
● Marked fat vacuoles in apical villous cytoplasm, normal villi
● Fat stains highlight lipid vacuoles
● Megaloblastic anemia
● Celiac sprue
● Tropical sprue
End of Small bowel (small intestine) > Malabsorption > Abetalipoproteinemia
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