Familial Hypercholesterolemia: A Family with Divergence of Clinical Phenotype and Biochemical Genotype Based on Fibroblast Studies

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Abstract
Two children exhibiting the classical signs of homozygous familial hypercholesterolemia (FHC) are described. However, their mother appeared to be normal with respect to serum lipids while their father had heterozygous FHC. Biochemical evaluation revealed the children to be heterozygotes as their father. Apparently, discrepancies between clinical phenotype and biochemical genotype may occur in FHC.