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Acanthocytosis Workup

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

Laboratory Studies

CBC count reveals mild-to-moderate normocytic anemia with an elevated reticulocyte count. Peripheral blood smear findings reveal 0.2-90% acanthocytes.

Iron and folate may be deficient.

Direct antibody test results are negative.

Blood group may show McLeod or null Lutheran phenotype.

Total bilirubin and lactate dehydrogenase levels are elevated, reflecting the degree of hemolysis.

Liver function tests and total protein and albumin levels are abnormal in liver disease.

Serum creatine kinase is elevated in chorea-acanthocytosis and McLeod syndrome.

Plasma lipid profile may be abnormal. In abetalipoproteinemia, plasma cholesterol levels are very low, less than 50 mg/dL. Plasma phospholipid levels are very low. Plasma apolipoprotein B is absent. Chylomicrons, VLDLs, and LDLs are absent. Serum triglyceride levels are very low, less than 10 mg/dL. Plasma sphingomyelin levels are relatively increased at the expense of lecithin.[12]

Levels of fat-soluble vitamins E, A, D, or K are decreased in abetalipoproteinemia, hypobetalipoproteinemia, and malnutrition.

Prothrombin time (PT) is prolonged in vitamin K deficiency.

Fecal fat is elevated in abetalipoproteinemia, hypobetalipoproteinemia, and malnutrition.

MTP or APOB sequencing may identify mutations (not widely available).

Endocrine studies may reflect hypothyroidism or panhypopituitarism.

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Imaging Studies

Brain MRI may be indicated.[10]

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Other Tests

Nerve conduction velocity test findings reveal slow nerve conduction and decreased amplitude of sensory potentials.

Electromyography findings reflect denervation in abetalipoproteinemia.

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Procedures

Intestinal and peripheral nerve biopsy is indicated when abetalipoproteinemia is suspected.

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Histologic Findings

Intestinal biopsy findings reveal engorgement of mucosal cells with lipid droplets and normal villi but a lack of apolipoprotein B using immunofluorescence.

Peripheral nerve biopsy findings reveal paranodal demyelination in abetalipoproteinemia.

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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 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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