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Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background

  • Despoina M. Choumerianou and George V. Z. Dedoussis
Published/Copyright: August 19, 2005

Abstract

Familial hypercholesterolemia is an autosomal dominant disease defined at the molecular level mainly by the presence of mutations in the low-density lipoprotein receptor gene and is characterized by elevated low-density lipoprotein cholesterol, tendon xanthomas and increased risk of early cardiovascular disease. The type of mutation in the low-density lipoprotein receptor gene has been associated with different phenotype expression and response to statins. Several studies have been undertaken to assess the efficacy of statins and evaluate the influence of mutations on the response to treatment with statins. Not all patients respond to statin therapy with a reduction in cardiovascular disease. In this review paper, we will discuss the results available to date that correlate the low-density lipoprotein receptor genotype to the response to statins, and the interest in developing diagnostic systems which will allow identification of patients at increased risk of adverse drug reactions or patients in which a therapeutic effect is lacking.


Corresponding author: George Dedoussis, PhD, Asst. Prof. of Biology, Laboratory of Molecular Genetics, Department of Nutrition and Dietetics, Harokopio University of Athens, 70 El. Venizelou str, 17671 Kallithea, Athens, Greece Phone: +30-210-954-9304, Fax: +30-210-957-7050,

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Received: 2005-3-24
Accepted: 2005-6-17
Published Online: 2005-8-19
Published in Print: 2005-8-1

©2005 by Walter de Gruyter Berlin New York

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