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Your Question

My sister has been diagnosed with acanthocytosis.  What is this condition?

Our Answer

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What is acanthocytosis?

Acanthocytosis is a condition characterized by the presence of abnormally-shaped red blood cells called acanthocytes. Signs and symptoms more commonly reported include a history of chronic diarrhea with pale, foul-smelling, and bulky stools; loss of appetite and vomiting; and slow weight gain and decreased growth. Some individuals hvae may have ataxia, tremors, and visual abnormalities; or jaundice, abdominal pain, pallor, dark urine, and recurrent infections. Although acanthocytosis has been associated with a number of both inherited and acquired conditions, it most commonly occurs with abetalipoproteinemia and hemolytic anemia of severe liver disease. Treatment for acanthocytosis depends on the underlying condition the affected individual has.[1][2]
Last updated: 10/23/2013

What causes acanthocytosis?

Most forms of acanthocytosis are associated with abnormalities in the number of lipids in the membrane of red blood cells. In rare instances, abnormalities in the proteins or skeleton of the red blood cell have also been detected. [3] The imbalance in membrane lipids causes cells to stiffen, wrinkle, pucker, and form projectives.  In membrane protein or skeletion abnormalities, the detect is intrinsic, but arises due to imbalances. [1] Acanthocytosis associated with abetalipoproteinemia or severe liver dysfunction is typically caused by abnormalities in red blood cell membrane lipids, while acanthocytosis associated with neuroacanthocytosis, McLeod syndrome, chorea-acanthocytosis syndromes, and other rare syndromes can be attributed to changes in the proteins or skeleton of red blood cell membrane. [1][3] 
Last updated: 11/1/2013

Which conditions are associated with acanthocytosis?

Acanthocytosis has been found to be associated with a number of conditions.  Abetalipoproteinemia and hemolytic anemia of severe liver disease are the most frequent and significant underlying conditions associated with acanthocytosis.  The condition can also occur in neuracanthocytosis, anorexia nervosa and other malnutrition states, McLeod syndrome, hypothyroidism, and more. [1]
Last updated: 4/28/2008

What are the signs and symptoms of acanthocytosis? How is it diagnosed?

The signs and symptoms in acanthocytosis vary depending on the underlying cause. Blood smear findings and other studies may reveal an uptake of cholesterol and its preferential accumulation in the outer part of the red blood cell membrane in hemolytic anemia in severe liver disease, while selective accumulation of sphingomyelin in the outer part of the red blood cell membrane may be observed in abetalipoproteinemia. The exact change in the cell membrane that occurs in chorea-acanthocytosis syndrome, malnutrition, and McLeod syndrome are unknown. [3]  Lab studies may include, but are not limited to, looking for signs of anemia, iron and folate deficiency, elevated levels of total bilirubin and lactate dehydrogenase, abnormal liver function, abnormal levels of plasma lipid, and decreased levels of vitations A, D, E, and K. [3]

Although the symptoms of acanthocytosis may vary depending on the person and the underlying cause of the condition, patients may have a history of chronic diarrhea with pale, foul-smelling and bulky stools; loss of appetite and vomiting; and slow weight gain and decreased growth, possibly including a bleeding tendency.  Patients may report symptoms of ataxia, tremors, and visual abnormalities or jaundice, abdominal pain, pallor, dark urine, and recurrent infections. Adolescents and adults may report dyskinesias and cognitive deterioration. [3]  Click here to obtain a more comprehensive list of symptoms.
Last updated: 10/17/2013

How might one determine the underlying cause of his or her acanthocytosis?

One's health care provider can assist in determining the cause of a person's acanthocytosis by ordering the appropriate laboratory tests, reviewing the results of tests performed, and gathering a thorough medical history. 
Last updated: 4/28/2008

How is acanthocytosis treated?

Medical care is based on the symptoms and underlying cause.  Treatment may include dietary restrictions, vitamin supplementation, occupational and physical therapy, hormone replacement therapy, and medication.  Surgery may be necessary in cases of gastrointestinal bleeding and hemolysis. [3] 
Last updated: 4/28/2008

  • de Alarcon PA. Acanthocytosis. Medscape Reference. November 30, 2011; Accessed 11/1/2013.
  • Pedro A de Alarcon. Acanthocytosis. Medscape Reference. November 30, 2011; Accessed 10/23/2013.
  • Steinberg MH, Benz Jr. EJ, Adewoye HA, Ebert B. Chapter 28: Pathobiology of the Human Erythrocyte and Its Hemoglobins. Section: Acanthocytosis, Stomatocytosis, and Bilayer Couple Hypothesis. Hoffman: Hematology: Basic Principles and Practice, 4th ed.. Philadelphia, PA: Churchill Livingstone, An Imprint of Elsevier; 2005;