摘要

Familial hypercholesterolemia (FH) is a genetic disorder caused by a mutation affecting one or both alleles encoding the LDL receptor. If left untreated, phenotype homozygotes usually die in their second or third decade from severe atherosclerotic involvement of their ostia and aortic root. FH is typically characterized by high levels of serum LDL-C (240-500 mg/dl), tendon xanthomas in a large proportion of the affected subjects and the incidence of premature cardiac arterial disease in the third or fourth decade. A major breakthrough in the pharmacological treatment of hypercholesterolemia has been the introduction of inhibitors of HMG-CoA reductase (i.e., statins). A safe and effective medication to treat FH is atorvastatin, a synthetic tissue-selective statin. In comparison with previously available statins, atorvastatin (across its dosage range of 10-80 mg/day) produces the greatest reduction in total cholesterol, LDL-C and triglycerides in patients with FH. Furthermore, multiple trials involving clinical efficacy of atorvastatin in the treatment of FH have been reported.

  • 出版日期2010-10