Acanthocytosis 

  • Author: Pedro A de Alarcon, MD; Chief Editor: Max J Coppes, MD, PhD, MBA   more...
 
Updated: Nov 30, 2011
 

Background

Acanthocytes (from the Greek word acantha, which means thorn), or spur cells, are spiculated red cells with a few projections of varying size and surface distribution (see the images below).

This image (magnified X 2000) shows the spiculatedThis 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 acanthoThis 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.

The cells appear contracted, dense, and irregular. The morphology of acanthocytes in these various conditions is similar, but the pathogenesis and clinical context often greatly differ. In general, the formation of acanthocytes depends on alteration of the lipid composition and fluidity of the red cell membrane.

Acanthocytosis is a red cell phenotype associated with various underlying conditions. The most frequent and most significant conditions include abetalipoproteinemia (Bassen-Kornzweig syndrome)[1] and spur cell hemolytic anemia of severe liver disease. Other, less frequent conditions include the following:

  • Neuroacanthocytosis[2]
  • Anorexia nervosa and other malnutrition states
  • Infantile pyknocytosis
  • McLeod syndrome
  • In(Lu) null Lutheran phenotype
  • Hypothyroidism
  • Idiopathic neonatal hepatitis
  • Myxedema
  • Transient hemolysis and stomatocytosis in individuals with alcoholism and mild hemolysis and spherocytosis in individuals with congestive splenomegaly
  • Homozygous familial hypobetalipoproteinemia
  • Zieve syndrome
  • Chronic granulomatous disease (CGD) associated with McLeod red cell phenotype

Acanthocytes should be distinguished from echinocytes (from the Greek word echinos, which means urchin). Echinocytes, or burr cells, appear with multiple small projections that are uniformly distributed on the red cell surface (see the image below).

This image (magnified X 2000) shows echinocytes, oThis 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.

Echinocytes occur in many conditions, including malnutrition associated with mild hemolysis due to hypomagnesemia and hypophosphatemia, uremia, hemolytic anemia in long-distance runners, and pyruvate kinase deficiency. In vitro, elevated pH, blood storage, ATP depletion, calcium accumulation, and contact with glass can lead to formation of echinocytes.

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Pathophysiology

The description of acanthocyte pathophysiology varies depending on the underlying condition. Acanthocytes can be caused by (1) altered distribution or proportions of membrane lipids or by (2) membrane protein or membrane skeleton abnormalities. In membrane lipid abnormalities, previously normal red cell precursors often acquire the acanthocytic morphology from the plasma. Altered membranes may contain decreased phosphatidylcholine levels but increased levels of cholesterol and sphingomyelin. The imbalance in membrane lipids causes cells to stiffen, wrinkle, pucker, and form spicules because of a relative increase of the outer hemileaflet's surface area compared with the inner hemileaflet's surface area. In membrane protein or membrane skeleton abnormalities, the defect is intrinsic but, again, causes imbalances in inner versus outer leaflet surface areas and abnormal interaction between the membrane skeleton and lipid membrane.

The alteration in plasma lipids in autosomal recessive abetalipoproteinemia caused by the absence of beta-apolipoprotein is best described. Specifically, the lipoproteins apoprotein B (ApoB)–48 and ApoB-100 are deficient because of either abnormal assembly or defective aposecretion, leading to absent cellular secretion from hepatocytes or intestinal epithelial cells. Formation of normal chylomicrons (ie, lipoproteins that contain cholesterol and triglycerides) is inhibited and prevents intestinal absorption of lipids, leading to severe fat malabsorption. In addition to lipid abnormalities and altered membrane integrity, red cells have secondary vitamin E–deficiency and develop increased oxidant sensitivity, with a tendency to hemolyze more easily. Acanthocytes in the homozygous form of familial hypobetalipoproteinemia are thought to have a similar pathophysiology.

Severe liver dysfunction of various etiologies can also cause altered plasma lipid composition and acanthocytes (usually called spur cells in this case) because of acquired abnormal red cell membrane lipid composition. The liver dysfunction causes accumulation of an abnormal, apolipoprotein A-II-deficient lipoprotein in plasma. Red cells are loaded with cholesterol by this lipoprotein and acquire an increased cholesterol-to-phospholipid ratio and a surface area preferentially within the outer bilayer leaflet. Cholesterol-laden red cells are then remodeled in the spleen, resulting in the typical spur cell shape. The molecular mechanisms are not completely clear and may also include influences on membrane protein content and functions. The resulting spur cells are less deformable and are easily trapped in the spleen, conferring markedly shortened red cell survival.

Another group of patients with liver dysfunction may have normal red cell membrane lipids, and the pathophysiology in these cases is unknown. This situation is seen more often in children with severe hepatocellular dysfunction.

In neuroacanthocytosis, the plasma lipoproteins are normal, and the formation of acanthocytes may be associated with intrinsic membrane abnormalities. Studies have indicated that abnormal protein formation or abnormal membrane protein trafficking is involved. Electron microscopy studies have shown that membrane protrusions depend on the irregular distribution of the membrane skeletons. Therefore, shape changes are likely related to interactions between membrane skeletons that harbor abnormal proteins and lipid membranes.

These results were also found in acanthocytes due to the McLeod blood group. Individuals with the McLeod blood group or McLeod syndrome lack the Kx antigen, a membrane precursor of the Kell antigen that leads to acanthocytic red cell morphology. The Kell antigen is located on a 93-kD glycoprotein and is associated with the underlying membrane skeleton. Significant ultrastructural variability between cells is observed. McLeod acanthocytes also exhibit increased mechanical stability on ektacytometry findings, increased membrane rigidity, decreased potassium content, and an increased frequency of dense cells. Another blood group phenotype, the null Lutheran blood group or In(Lu) Lu(a-b-) red cell phenotype also causes acanthocytes. However, in both blood groups and in neuroacanthocytosis, cells are more resistant to hemolysis than in the previously mentioned disorders.

Acanthocytes are also found in myxedema, in panhypopituitarism, and in 20-65% of hypothyroidism cases. Serum lipid abnormalities with hypothyroidism are common, and patients with acanthocytes may have more severely abnormal lipids than patients with normal-shaped red cells.

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Epidemiology

Frequency

International

Acanthocytes are found in 50-90% of cells on peripheral blood smear findings in abetalipoproteinemia, which is a rare autosomal recessive disorder with only about 100 cases described worldwide. Acanthocytes are also relatively common in severe liver dysfunction and malnutrition. Spur cell hemolytic anemia of severe liver disease is an uncommon complication and depends on the incidence of the underlying hepatic or hepatotoxic disorder. It occurs most often in patients with alcoholic cirrhosis, which develops in 10-30% of all patients with alcoholism (approximately 10 million in the United States).

The percentage of acanthocytes is usually smaller in the rare conditions of neuroacanthocytosis and McLeod and null Lutheran red cell blood group abnormalities. In hypothyroidism, 20-65% of cases have approximately 0.5-2% acanthocytes on peripheral smear findings.

Mortality/Morbidity

Mortality and morbidity with acanthocytosis due to abetalipoproteinemia is not well described because of the rarity of the disease and the limited prognostic data. Lifespan may be near normal with early diagnosis and adequate vitamin supplementation and dietary restriction but may vary significantly. Death may occur in the second or third decade and is usually determined by the degree and progression of neurological complications. Acanthocytosis due to severe liver dysfunction is a hallmark of high risk for mortality. In neonatal hepatitis, the process resolves in 65% of individuals within weeks to months. Acanthocytosis in infantile pyknocytosis is a transient benign process. In malnutrition, hypothyroidism, and myxedema, the red cell abnormality resolves with appropriate treatment and resolution of the underlying disease.

Race

Acanthocytosis within the various underlying conditions is seen in all ethnicities.

Sex

Acanthocytosis has no sex predominance.

Age

The appearance of acanthocytes depends on the underlying condition. Acanthocytes in infants and children may indicate infantile pyknocytosis, neonatal hepatitis, autosomal recessive abetalipoproteinemia or homozygous familial hypobetalipoproteinemia, McLeod blood group, null Lutheran blood group, CGD with McLeod blood group, hypothyroidism, or severe malnutrition.

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Medical/Legal Pitfalls

Acanthocytes should not be confused with echinocytes.

Abetalipoproteinemia is a rare disorder in children. The diagnosis may initially be missed or delayed.

Autosomal recessive abetalipoproteinemia must be differentiated from the homozygous form of familial hypobetalipoproteinemia. The presentation of both disorders is similar, but hypobetalipoproteinemia is clinically milder.

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Contributor Information and Disclosures
Author

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 Federation for Clinical Research, American Pediatric Society, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, Eastern Society for Pediatric Research, International Society for Experimental Hematology, International Society of Hematology, International Society on Thrombosis and Haemostasis, Medical Society of the State of New York, National Hemophilia Foundation, New York Academy of Sciences, Society for Pediatric Research, Southern Society for Pediatric Research, and Virginia Chapter of the American Academy of Pediatrics and the Virginia Pediatric Society

Disclosure: Nothing to disclose.

Specialty Editor Board

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 and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

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, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and International Society for Experimental Hematology

Disclosure: Nothing to disclose.

Samuel Gross, MD  Professor Emeritus, Department of Pediatrics, University of Florida; Clinical Professor, Department of Pediatrics, University of North Carolina; Adjunct Professor, Department of Pediatrics, Duke University

Samuel Gross, MD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology, American Society of Hematology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA  Senior Vice President, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University School of Medicine; Clinical Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

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

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Ulrike Reiss, MD, to the original writing and development of this article.

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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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