The initial workup of<unk>  typically consists of stool sampling, a blood smear, and a fasting lipid panel, though these tests are not confirmatory. As the disease is rare, though a genetics test is necessary for diagnosis, it is generally not done initially. However, prenatal testing may be available for pregnancies identified to be at an increased risk (if both parents are unaffected carrier or one parent is affected and the other in a carrier). Acanthocytes are seen on blood smear. Since there is no or little assimilation of chylomicrons, their levels in plasma remains low. The inability to absorb fat in the ileum will result in steatorrhea, or fat in the stool. As a result, this can be clinically diagnosed when foul-smelling stool is encountered. Low levels of plasma chylomicron are also characteristic. There is an absence of apolipoprotein B. On intestinal biopsy, vacuoles containing lipids are seen in enterocytes. This disorder may also result in fat accumulation in the liver (hepatic steatosis). Because the epithelial cells of the bowel lack the ability to place fats into chylomicrons, lipids accumulate at the surface of the cell, crowding the functions that are necessary for proper absorption. Multiple related disorders present with similar symptoms as<unk>  that can provide a useful diagnosis through comparisons. Some of those disorders are:
Abetalipoproteinemia
Hypobetalipoproteinemia
Hypoalphalipoproteinemia
Familial dysbetalipoproteinemia
D-Glyceric acidemia
Lipoatrophic diabetes
Familial hypertriglyceridemia
Pipecolic acidemia