- Author: Pedro A de Alarcon, MD; Chief Editor: Max J Coppes, MD, PhD, MBA more...
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.
Genetic counseling is indicated in cases of abetalipoproteinemia or hypobetalipoproteinemia, neuroacanthocytosis, McLeod, and In(Lu) Lu(a-b-) red cell phenotype.
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.
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.
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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