ABSTRACT
This chapter presents a case study of a 27-year-old man, whose clinical and family history was reported in detail in 1966, developed eruptive xanthomas, lipemia retinalis, hyperchylomicronemia and hepatosplenomegaly in early infancy, and bouts of abdominal pain beginning at 7 years of age. The diagnosis of type I hyperlipoproteinemia was confirmed on many occasions by analysis of plasma lipids before and after restriction of dietary fat intake. Histochemical, biochemical, microfluorometric and electron microscopic studies were made of the spleen of a patient with type I hyperlipoproteinemia. Foam cells were observed that contained a material identified as ceroid on the basis of its autofluorescence, acid-fastness, sudanophilia, PAS-positivity and insolubility in organic solvents. The underlying biochemical lesion is believed to be a deficiency in the activity of the tissue lipase having particular affinity for triglycerides in lipoproteins.
