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Observations on Leukocytes from Patients with Severe Familial Hypercholesterolemia

Difference in light scatter and fluorescence emission of blood leukocytes from patoents with familial hyperchoeisterolemla (FH) and normal patients incubated with oil red O and (NBD-Cl)-acetyl-LDL were observed by flow-through cytofluorometry and used to distinguish a subciass of leukocytes. The appearance of this subpopulation of leukocytes in FH apparently corrected with the excessive hypercholesterolemia. In addition, microscopic evaluation of blood smears suggested the formation of small cytoplasmic vacuoles in a population of FH monocytic cells. While these are preliminary observations on a small number of patientsx, they warrent further study. However, the use of lipophilic dyes and fluorescent acetyl-LDL in combination with flow cytometry may be another useful means for evaluation of FH.