ABSTRACT

This chapter provides a case study of a 34-year-old black man, was first diagnosed as having hyperlipemia at age 8, in 1945. He was first admitted to the Clinical Center of the National Institutes of Health in 1955, at which time he was found to have lipemia retinalis, hepatosplenomegaly, hyperlipemia and sickle cell trait. Light and electron microscopic study of aspirated bone marrow of a patient with type I hyperlipoproteinemia disclosed large, birefringent foam cells which develop from phagocytosis of chylomicrons by histiocytes. Chylomicrons are taken up, singly and in aggregates, by infoldings of the plasma membranes of histiocytes; these infoldings become phagocytic vacuoles within the cytoplasm. As chylomicrons are metabolized, the foam cells decrease in size, lose birefringence and develop autofluorescent, electron-dense deposits of ceroid.