Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Acanthocytosis


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview


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

References

  1. de Alarcon PA. Acanthocytosis. Medscape Reference. November 30, 2011; http://emedicine.medscape.com/article/954356-overview. Accessed 11/1/2013.
  2. Pedro A de Alarcon. Acanthocytosis. Medscape Reference. November 30, 2011; http://emedicine.medscape.com/article/954356-overview. Accessed 10/23/2013.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

1 question(s) from the public on Acanthocytosis have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Acanthocytosis. Click on the link to view a sample search on this topic.