Min‐Ji Charng Min‐Ji Charng

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http://dx.doi.org/10.5772/63949

#### **Abstract**

Familial hypercholesterolemia (FH) is an autosomal codominant genetic disorder of lipoprotein metabolism. Patients can be heterozygous (HeFH) with one mutated allele, homozygous (HoFH) with two identical mutations, or compound heterozygous with different mutations in each allele. HoFH is the more severe form of the disease and is associated with extremely elevated levels of total cholesterol and low‐density lipopro‐ tein cholesterol (LDL‐C). These lipid abnormalities are associated with accelerated atherosclerosis and cardiovascular disease (CVD) and an increased risk of cardiac events and early death. The prevalence of HoFH has been estimated to be 1 in 1 million; however, this is likely an underestimation as the disease is substantially underdiag‐ nosed and undertreated. Early diagnosis and treatment are important to reduce CVD events. Aggressive therapy with conventional agents such as statins and ezetimibe produce substantial reductions in LDL‐C, but patients rarely reach target goals. Apheresis should be considered in all patients with HoFH, although LDL‐C levels rapidly rebound to baseline levels. Three recently introduced novel agents (mipomers‐ en, lomitapide, and evolocumab)—each with a unique mechanism of action—have increased therapeutic options in this difficult‐to‐treat population. When added to standard therapy, these agents produce significant additional LDL‐C lowering and can potentially improve clinical outcomes.

**Keywords:** evolocumab, familial hypercholesterolemia, lomitapide, mipomersen, treatment

© 2016 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. © 2016 The Author(s). Licensee InTech. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
