Acanthocyte – Definition, Causes and Diagnosis
Acanthocytes are abnormally shaped red blood cells with irregular, spike-like projections. They are associated with various diseases and carry important diagnostic significance.
Things worth knowing about "Acanthocyte"
Acanthocytes are abnormally shaped red blood cells with irregular, spike-like projections. They are associated with various diseases and carry important diagnostic significance.
What is an Acanthocyte?
An acanthocyte (from Greek akantha = thorn, spine) is an abnormally shaped red blood cell (erythrocyte) characterized by irregular, spike-like projections on its surface. While normal erythrocytes have a smooth, biconcave disc shape, acanthocytes display between 3 and 12 unevenly distributed spicules or protrusions. These morphological changes result from disturbances in the composition of the cell membrane, particularly an altered ratio of cholesterol to phospholipids.
Causes and Associated Conditions
Acanthocytes form due to structural changes in the erythrocyte membrane. They can appear in a variety of different diseases:
- Abetalipoproteinemia (Bassen-Kornzweig syndrome): A rare genetic disorder of fat metabolism in which nearly all erythrocytes appear as acanthocytes. This is the classic cause of pronounced acanthocytosis.
- Neuroacanthocytosis: A group of rare neurodegenerative disorders (e.g., chorea-acanthocytosis, McLeod syndrome) in which acanthocytes are accompanied by neurological symptoms.
- Severe liver disease: Particularly liver cirrhosis and alcoholic liver disease can lead to acanthocyte formation through altered plasma lipoproteins, a condition known as spur-cell anemia.
- Hypothyroidism: An underactive thyroid gland can in rare cases be associated with acanthocytosis.
- Malnutrition and vitamin E deficiency: May also contribute to membrane changes.
- Myelodysplastic syndromes and hemolytic anemias: Acanthocytes may appear as an accompanying finding in these conditions.
Symptoms
Acanthocytes themselves do not cause direct complaints, but they are an indicator of an underlying disease. Clinical symptoms depend on the underlying condition:
- Anemia symptoms such as pallor, fatigue, and reduced performance (in hemolytic anemia due to premature breakdown of the altered erythrocytes)
- Neurological findings such as involuntary movements, gait disturbances, or behavioral changes (in neuroacanthocytosis)
- Signs of liver disease such as jaundice, ascites, or coagulation disorders
- Fat malabsorption with diarrhea and weight loss (in abetalipoproteinemia)
Diagnosis
Acanthocytes are typically detected by microscopic examination of a peripheral blood smear. The characteristic spiky erythrocytes are identified and their proportion among total red blood cells is determined. It is important to distinguish acanthocytes from similarly appearing cell forms:
- Echinocytes (burr cells): Regularly arranged, finer projections; often an artifact of improper slide preparation
- Schistocytes (fragmentocytes): Fragmented red blood cells
Further diagnostic steps include a complete blood count, liver function tests, lipid profile, thyroid function tests, and, if neuroacanthocytosis is suspected, genetic testing and neurological evaluation.
Treatment
There is no specific therapy targeting acanthocytes themselves. Treatment is directed exclusively at the underlying condition:
- In abetalipoproteinemia: low-fat diet and high-dose supplementation of fat-soluble vitamins (A, D, E, K)
- In liver disease: treatment of the liver condition and, if necessary, transfusions for severe anemia
- In neuroacanthocytosis: symptomatic neurological management, as no curative treatment is currently available
- In hypothyroidism: thyroid hormone replacement therapy
References
- Lux SE. Anatomy of the red cell membrane skeleton: unanswered questions. Blood. 2016;127(2):187-199. PubMed PMID: 26537302.
- Walker RH et al. Neuroacanthocytosis syndromes. Orphanet Journal of Rare Diseases. 2011;6:22.
- Paltiel O, Shechter Y. Acanthocytes. In: Greer JP et al. (eds.): Wintrobe's Clinical Hematology. 13th edition. Lippincott Williams and Wilkins, Philadelphia 2014.
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