Acanthocytosis Treatment & Management

Updated: Mar 24, 2021
  • Author: Pedro A de Alarcon, MD; Chief Editor: Hassan M Yaish, MD  more...
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Treatment

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]

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Consultations

Consultations with the following may be indicated:

  • Gastroenterologist

  • Nutritionist

  • Ophthalmologist

  • Neurologist

  • Hematologist

  • Orthopedist

  • Cardiologist

  • Genetic counselor

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Diet

Restriction of long-chain fatty acids and judicious supplementation with medium-chain triglycerides is necessary in abetalipoproteinemia.

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