A new hereditary acanthocytosis syndrome.

Abstract Data are presented relating to a family of fifteen members, nine of whom have acanthocytes in their peripheral blood, and all of whom show varying degrees of neuronal impairment. The red cell deformation was shown to be present in circulating blood and not to be an artefact produced by changes in pH or tonicity. The differential diagnosis of acanthocytosis is discussed, and differences in abnormal shapes are distinguished. In contrast with previously described patients with acanthocytosis, this kindred shows (1) fewer acanthocytes, (2) no consistent abnormalities in several in vitro hemolytic systems, (3) normal serum carotene and tocopherol concentrations, (4) normal serum cholesterol, phospholipids and triglycerides and (5) normal amounts of both low (beta) and high (alpha) density lipoproteins. There were no correlations between the presence or numbers of acanthocytes, erythrocyte sedimentation rate, osmotic fragility, mechanical fragility, autohemolysis and hydrogen peroxide-induced hemolysis. In addition, the character of the neurologic disorder is different from those previously reported. Data are presented which support previously recorded suggestions that cholesterol, and other products of lipid metabolism, are involved in the maintenance of the shape of the red cell membrane. Disturbances in these mechanisms may well be concerned with the acanthocyte deformation and the accompanying changes which may be presumed to occur in the intestinal mucosa and nerve cells. These data provide a working hypothesis that the genetic defect in acanthocytosis is an autosomal dominant factor with phenotypic polymorphism, perhaps expressed as a structural defect in the apoprotein moieties of both low and high density lipoproteins.