Medication Summary
Treatment of abetalipoproteinemia includes dietary restriction of triglycerides, supplementation with medium-chain triglycerides, and supplementation of lipid-soluble vitamins A, D, E, and K in high doses. Occasionally, patients have associated iron or folic acid deficiencies, necessitating supplementation with oral iron and folic acid.
Vitamins and Cofactors
Class Summary
These agents are organic substances required by the body in small amounts for various metabolic processes. They are classified as fat-soluble or water-soluble. Vitamins A, D, E, and K are fat-soluble; biotin, folic acid, niacin, pantothenic acid, the B vitamins (ie, B-1, B-2, B-6, B-12), and vitamin C are generally water-soluble. These agents are clinically used for the prevention and treatment of specific vitamin-deficiency states.
Vitamin A (Aquasol A, Palmitate-A 5000)
Required for bone development, growth, night vision, and gonadal function and is a biochemical cofactor.
Ergocalciferol (Drisdol)
Vitamin D stimulates the absorption of calcium and phosphate from the intestines and decreases bone resorption.
Vitamin E (Nutr-E-Sol)
Vitamin E protects polyunsaturated fatty acids in membranes from free radical injury and stabilizes RBC membranes. Nutr-E-Sol is a specially formulated vitamin E complexed with polyethylene glycol 1000 succinate to allow direct absorption without biliary emulsification. This is the formulation of choice for vitamin E–replacement therapy in patients with cholestasis. The formulation contains 400 IU vitamin E/15 mL.
Phytonadione (Mephyton)
Vitamin K-1 is necessary for the production of clotting factors II, VII, IX, and X by serving as a cofactor during carboxylation of glutamic acid residues.
Folic acid
Important cofactor for enzymes used in production of RBCs.
Trace Elements
Class Summary
These agents are inorganic substances found in small amounts in the tissues and are required for various metabolic processes.
Polysaccharide-iron complex (Niferex, Nu-Iron)
A nutritionally essential inorganic substance. Polysaccharide-iron complex is a product that contains ferric iron. 150 mg equals 150 mg of elemental iron. Also available as elixir containing 100 mg elemental iron per 5 mL.
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This image (magnified X 2000) shows the spiculated thorny RBCs (acanthocytes) as observed in an individual with abetalipoproteinemia. These are indistinguishable from the acanthocytes shown in the next image, which are observed in an individual with spur cell hemolytic anemia. Used with permission from Little, Brown and Company.
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This image (magnified X 2000) demonstrates acanthocytes in an individual with spur cell hemolytic anemia associated with alcoholic cirrhosis. Acanthocytes, unlike echinocytes or burr cells, have fewer spicules. Used with permission from Little, Brown and Company.
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This image (magnified X 2000) shows echinocytes, or burr cells, a universal feature of uremia. The spicules of acanthocytes vary in length and width and project nonuniformly from the cell surface, while burr cells have regularly spaced, smoothly rounded crenulations. The second morphologic feature of RBCs in an individual with uremia is the presence of ellipsoid cells. Used with permission from Little, Brown and Company.
