title: Cholesterol efflux from cultured skin fibroblasts in 12 patients clinically heterozygous for familial hypercholesterolemia.
abstract: 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.
mesh_terms: D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics / Q000378:metabolism*; D008075:Lipoproteins, HDL / Q000097:blood; D008297:Male; D011506:Proteins / Q000378:metabolism; D014280:Triglycerides / Q000097:blood
chemical_list: D008075:Lipoproteins, HDL; D011506:Proteins; D014280:Triglycerides; D002784:Cholesterol