Cholesterol efflux from cultured skin fibroblasts in 12 patients clinically heterozygous for familial hypercholesterolemia.
The [3H]cholesterol efflux from cultured skin fibroblasts was investigated in 12 patients, clinically heterozygous for familial hypercholesterolemia (FH). The [3H]cholesterol efflux from fibroblasts was studied in the presence of high-density lipoproteins, isolated either from control sera or from the patient's own serum. The [3H]cholesterol efflux from fibroblasts of 3 patients was increased; it was decreased for 4 patients and similar to that of control cells for 5 patients. This study indicates that in some patients with heterozygous FH, abnormalities of [3H]cholesterol efflux from fibroblasts can be detected. The heterogeneity of the results is consistent with the heterogeneity of the low-density lipoprotein receptor activity and with the variability of the clinical picture found in this disease.