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Homozygous hypercholesterolaemia and ezetimibe: a case report

Hendriksz, CJ; Norbury, G; Tabrah, S; Taylor, A; Humphries, SE; (2004) Homozygous hypercholesterolaemia and ezetimibe: a case report. ACTA PAEDIATR , 93 (2) 280 - 282. 10.1080/08035250310008186.

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A girl of Indian origin presented with unusual nodules on her hands, and total cholesterol was found to be >25 mmol/L. The girl had "mild" P664L mutation and total cholesterol levels fell by 38% when she was on a diet and statin therapy. A further reduction of 26% in total cholesterol and 37% in low-density lipoprotein (LDL) was achieved by adding ezetimibe to the treatment. Conclusion: A case of homozygous hypercholesterolaemia is reported in order to highlight treatment options such as liver transplantation, LDL-aphaeresis and treatment with ezetimibe.

Type: Article
Title: Homozygous hypercholesterolaemia and ezetimibe: a case report
DOI: 10.1080/08035250310008186
Keywords: ezetimibe, homozygous, hypercholesterolaemia, LDL-aphaeresis, P664L, FAMILIAL HYPERCHOLESTEROLEMIA, APHERESIS
URI: http://discovery.ucl.ac.uk/id/eprint/97299
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