Acanthocytosis Workup

Updated: Mar 24, 2021
  • Author: Pedro A de Alarcon, MD; Chief Editor: Hassan M Yaish, MD  more...
  • Print
Workup

Laboratory Studies

A CBC 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. [7]

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.

Next:

Imaging Studies

Brain magnetic resonance imaging (MRI) may be indicated. [19]

Previous
Next:

Other Tests

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

Electromyography findings reflect denervation in abetalipoproteinemia.

Previous
Next:

Procedures

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

Previous
Next:

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.

Previous