Further Outpatient Care
Consider diet restrictions and nutritional supplementations. Regular monitoring of vitamin A, vitamin E, folate levels, iron studies, and other parameters is recommended, depending on the underlying condition.
Deterrence/Prevention
Genetic counseling is indicated in cases of abetalipoproteinemia or hypobetalipoproteinemia, neuroacanthocytosis, McLeod, and In(Lu) Lu(a-b-) red cell phenotype.
Complications
Acanthocytosis may induce variable degrees of hemolytic anemia, depending on the underlying condition.
In abetalipoproteinemia, complications include chronic mild hemolysis with mild anemia and a moderately shortened red cell survival. Occasionally, anemia is more severe because of secondary iron and folate deficiency. Malabsorption or celiac syndrome leads to steatorrhea and failure to thrive in the first year of life. Retinitis pigmentosa develops within the first decade of life with night blindness and progressive loss of visual field and acuity. Ophthalmoplegia may eventually develop. Neurologic changes begin in the first-to-second decade of life, are progressive, and include sensory disturbances, movement disorders, muscle weakness, and mental retardation. Ataxic neurologic disease is progressive, with loss of ambulation by the third decade of life.
In neuroacanthocytosis, including X-linked McLeod syndrome, hematologic manifestations are usually minimal; however, neurologic symptoms are progressive and manifest in the second-to-fifth decade of life, except for pantothenate kinase-associated neurodegeneration, which manifests in childhood. Neurologic symptoms include dyskinesias, cognitive deterioration, and progressive neurodegeneration, mainly of the basal ganglia. McLeod syndrome may also lead to generalized seizures, arrhythmias, and dilated cardiomyopathy.
Red cells of individuals with the McLeod blood group (who are prone to develop McLeod syndrome) lack Kx antigen, a membrane precursor of the Kell antigen, and may become sensitized, requiring McLeod red cells for transfusions.
Prognosis
Complications of abetalipoproteinemia progress to cause death in the second or third decade. The clinical course of spur cell anemia is progressive and usually fatal because of end-stage liver disease. Life expectancy is reduced in the various forms of neuroacanthocytosis.
A study by Walker et al of patients with chorea-acanthocytosis or McLeod syndrome found causes of mortality to include pneumonia, cardiac disease, seizure, suicide, and sepsis, with suicidality associated with 10% of individuals with chorea-acanthocytosis. [23]
Patient Education
The Genetics Home Reference from the US National Library of Medicine provides excellent updated information and multiple links for further study on abetalipoproteinemia.
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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.
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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.
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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.
