A 12-year-old male is seen for fatigue. A blood smear indicates the presence of acanthocytes. Which of the following disorders may be the cause of this finding?
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Acanthocytes are red blood cells that are dense and contracted with multiple spicules or thorny projections. The thorn-like surface protrusions vary in length, width, and surface distribution.
Abetalipoproteinemia is an inborn error of lipid metabolism with an inability to synthesize and assemble apolipoprotein B (apo B), the lipid transport protein. Apo B coats chylomicrons.
The inability to synthesize and transport apo B causes a severe reduction of all major plasma lipids and a disproportionate decrease in lecithin in exchange for sphingomyelin that is more rigid. This results in an imbalance in membrane lipids and causes immature red blood cells to stiffen, pucker, wrinkle, and form spicules.
The appearance of these cells is impressive, but the overall membrane viscosity is not increased enough to interfere with microcirculation transit so hemolysis is mild.
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Adult Lab Normals
Pediatric Lab Normals
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