Acanthocytes are seen in
Ref, Tejinder Singh 1/e p38 Abetalipoproteinemia is an autosomal recessive disease char- acterized by an inability to secrete triglyceride-rich lipo- proteins. Although it is rare, it is included here as an example of a transepithelial transpo defect that leads to malabsorption. Mutation in the microsomal triglyceride transfer protein renders enterocytes unable to expo lipo- proteins and free fatty acids. As a result, monoglycerides and triglycerides accumulate within the epithelial cells. Lipid vacuoles in small intestinal epithelial cells are evident by light microscopy and can be highlighted by special stains, such as oil red O, paicularly after a fatty meal. Abetalipoproteinemia manifests in infancy, and the clinical picture is dominated by failure to thrive, diarrhea, and steatorrhea. Failure to absorb essential fatty acids leads to deficiencies of fat-soluble vitamins, and lipid defects in plasma membranes often produce acanthocytic red cells (spur cells) in peripheral blood smears.
Abetalipoproteinemia
Hanup disease
Whipple disease
None
Haematology