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Acanthocytosis Differential Diagnoses

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

Diagnostic Considerations

Congenital conditions

McLeod red cell phenotype and CGD: The gene that controls Kx expression on RBCs is adjacent to the locus involved in CGD. Large deletions in this region may result in the appearance of both CGD and acanthocytic McLeod red cells. Although most patients with CGD do not have both ailments, those in whom both genes are affected have a mild hemolytic anemia. Large deletions around the XK locus may also cause McLeod syndrome to be accompanied with Duchenne muscular dystrophy, retinitis pigmentosa, and ornithine transcarbamylase deficiency.[11]

Acquired conditions

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

Differential Diagnoses

 
 
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 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.

Acknowledgements

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.

References
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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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