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Acanthocytosis Treatment & Management

  • Author: Pedro A de Alarcon, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
Updated: Oct 15, 2015

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.[13]



Consultations with the following may be indicated:

  • Gastroenterologist
  • Nutritionist
  • Ophthalmologist
  • Neurologist
  • Hematologist
  • Orthopedist
  • Cardiologist
  • Genetic counselor


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

Contributor Information and Disclosures

Pedro A de Alarcon, MD William H Albers Professor and Chair, Department of Pediatrics, University of Illinois College of Medicine at Peoria

Pedro A de Alarcon, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, American Society of Pediatric Hematology/Oncology, International Society of Hematology, International Society on Thrombosis and Haemostasis, Medical Society of the State of New York, New York Academy of Sciences, Society for Pediatric Research, Southern Society for Pediatric Research, Children's Oncology Group, Eastern Society for Pediatric Research, National Hemophilia Foundation, International Society for Experimental Hematology, Virginia Chapter of The American Academy of Pediatrics, Virginia Pediatric Society, American Federation for Clinical Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven K Bergstrom, MD Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland

Steven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, Children's Oncology Group, American Society of Clinical Oncology, International Society for Experimental Hematology, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American College of Healthcare Executives, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research

Disclosure: Nothing to disclose.

Additional Contributors

J Martin Johnston, MD Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Hematology/Oncology, The Children's Hospital at Memorial University Medical Center; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital

J Martin Johnston, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, International Society of Paediatric Oncology

Disclosure: Nothing to disclose.


Ulrike M Reiss, MD Associate Member, Department of Hematology, St Jude Children's Research Hospital

Disclosure: Nothing to disclose.

Mary E Ross, MD, PhD Assistant Professor, Department of Pediatrics, University of Illinois College of Medicine; Clinical Attending, St Jude Domestic Affiliate Clinic and Children’s Hospital of Illinois; Adjunct Faculty, St Jude Children’s Research Hospital

Disclosure: Nothing to disclose.

  1. Siegl C, Hamminger P, Jank H, Ahting U, Bader B, Danek A, et al. Alterations of red cell membrane properties in nneuroacanthocytosis. PLoS One. 2013 Oct 3. 8(10):e76715. [Medline]. [Full Text].

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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.
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.
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.
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