Medical Care
Treatment of disorders with acanthocytosis depends on the underlying condition.
Medical care of abetalipoproteinemia includes dietary restriction of long-chain fatty acids, with judicious supplementation with medium-chain triglycerides. Supplementation with lipid-soluble vitamins A, D, E, and K is necessary in large doses.
Vitamin E supplementation may stabilize neuromuscular and retinal abnormalities. Iron and folate supplementation may be necessary.
Occupational and physical therapy is recommended to treat progressive neurologic disease.
Typical care for severe liver disease includes careful fluid management, correction of metabolic disturbances, treatment of hypoglycemia, and careful nutritional management.
Encephalopathy requires decreasing ammonia production.
GI bleeding may require surgical intervention. Other therapies appropriate for the underlying disease may be necessary.
Splenectomy moderates hemolysis; however, it should be reserved for patients in whom the risks of abdominal surgery are considered acceptable.
Surgical risks are high in the setting of severe hepatocellular disease, portal hypertension, and coagulopathy.
In spur cell hemolytic anemia of severe liver disease, various lipid-lowering agents have been tried without success.
Hormone replacement is administered as indicated with endocrine disorders.
A literature review by Smith and Spindler suggested that deep brain stimulation may be effective in the treatment of chorea-acanthocytosis and other hyperkinetic movement disorders. However, the investigators reported that although some improvement occurred in most of the cases reviewed, which included 15 patients with chorea-acanthocytosis, each condition covered also included cases in which patients experienced no improvement or symptoms actually worsened. [22]
Consultations
Consultations with the following may be indicated:
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Gastroenterologist
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Nutritionist
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Ophthalmologist
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Neurologist
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Hematologist
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Orthopedist
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Cardiologist
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Genetic counselor
Diet
Restriction of long-chain fatty acids and judicious supplementation with medium-chain triglycerides is necessary in abetalipoproteinemia.
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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.
