Fat-soluble vitamin supplementation in homozygous familial hypobetalipoproteinemia may arrest neurological complications despite the persistence of acanthocytosis.
May support vitamin supplementation to stabilize neurology in homozygous familial hypobetalipoproteinemia; hypothesis-generating and requires prospective validation.
We report on acanthocytosis in a 31-year-old woman with homozygous familial hypobetalipoproteinemia due to a mutation affecting the splicing of the APOB gene encoding apolipoprotein B. Treatment with fat-soluble vitamins was associated with arrest of the usually progressive neurological complications of this condition. However, the acanthocytosis - literally 'thorny' erythrocytes that result from abnormal membrane fluidity - persists despite treatment.
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Hegele et al. (2002) studied this question.
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