Use of Fibroblast Culture to Diagnose and Genotype Familial Hypercholesterolaemia

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Abstract
The determination of HMG-CoA reductase and cholesterolester:total cholesterol ratio in human fibroblasts, originally used as biochemical approach to detect the defect of cholesterol metabolism in familial hypercholesterolaemia, were applicable for clinical purposes to identify and classify patients with familial hypercholesterolaemia. These methods could separate 44 normal subjects from 36 heterozygotes and 4 homozygotes (p < 0.001). Furthermore, these tests identified 4 patients in whom clinical identification was misleading.