Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia
MD Feher, JC Webb, DD Patel, AF Lant, PD Mayne… - Atherosclerosis, 1993 - Elsevier
Familial hypercholesterolaemia (FH) is caused by mutations in the gene for the low density
lipoprotein (LDL) receptor. It is generally believed that homozygous FH patients do not
respond well to lipid-lowering drug therapy with inhibitors of 3-hydroxy-3-methylglutaryl CoA
reductase because they cannot respond to an increased demand for hepatic cholesterol by
up-regulation of LDL-receptor activity. In this paper we show that serum cholesterol in a
homozygous FH patient with a receptor-negative LDL-receptor phenotype was reduced by …
lipoprotein (LDL) receptor. It is generally believed that homozygous FH patients do not
respond well to lipid-lowering drug therapy with inhibitors of 3-hydroxy-3-methylglutaryl CoA
reductase because they cannot respond to an increased demand for hepatic cholesterol by
up-regulation of LDL-receptor activity. In this paper we show that serum cholesterol in a
homozygous FH patient with a receptor-negative LDL-receptor phenotype was reduced by …
