1 Division of Gastroenterology, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, and the Hematology-Oncology Section, Department of Medicine, University of Pennsylvania, Philadelphia
Progressive hemolytic anemia occurred in a 4
-year-old girl with familial intrahepatic cholestasis; a peripheral smear contained bizarre spiculated "spur" red cells. Analysis of this patient's fresh red cells revealed a 59% increase in cholesterol content with a normal phospholipid content and therefore an increase in the cholesterol /phospholipid molar ratio to 1.35 (normal = 0.92). A similar abnormality of lipid composition was present in serum lipoproteins. The lipid abnormality in red cell membranes was associated with a decrease in membrane fluidity, as assessed by the fluorescence polarization of the hydrophobic probe 1,6-diphenyl- 1,3,5-hexatriene. Following incubation with patient's plasma, normal cells acquired a spur-shaped morphology with an associated decrease in osmotic fragility and a 25% increase in cholesterol content. The patient's cells, during incubation with normal plasma, acquired morphologic features of spiculated spherocytes with an increase in osmotic fragility and a 21% decrease in cholesterol content. Chenodeoxycholate and lithocholate were present in markedly elevated concentrations in serum. These studies show that a process identical to spur cell anemia in alcoholic cirrhosis may accompany severe liver disease in children with intrahepatic cholestasis.