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Small bowel (small intestine)

Malabsorption

Abetalipoproteinemia


Reviewer: Hanni Gulwani, M.D. (see Reviewers page)
Revised: 14 December 2012, last major update August 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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● 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

Laboratory
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● Lipid profile shows no chylomicrons, no VLDL, no LDL
● CBC smear shows acantholytic red blood cells (Burr cells) due to lipid membrane abnormalities

Micro description
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● Marked fat vacuoles in apical villous cytoplasm, normal villi

Positive stains
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● Fat stains highlight lipid vacuoles

Differential diagnosis
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● Megaloblastic anemia
Celiac sprue
Tropical sprue

End of Small bowel (small intestine) > Malabsorption > Abetalipoproteinemia


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