Familial hypercholesterolemia (FH) is an inherited common autosomal Mendelian disorder of lipoprotein metabolism with a population prevalence of 1 in 500. FH is characterized by severely elevated levels of low-density lipoprotein cholesterol (LDL-C), which result in surplus deposition of cholesterol in tissues. This condition leads to premature at hero sclerosis and early-onset of coronary heart disease. FH mainly results from mutations in the LDLR gene. However, mutations in other genes like APOB and PCSK9 can cause similar phenotype. Early diagnosis and treatment of FH patients will reduce morbidity and mortality. Index cases are usually diagnosed using cholesterol levels, clinical characteristics and familial history despite this, genetic testing may present a decisive diagnosis of FH by detecting a pathological mutation. Then cascade testing is implemented for first-degree relatives by using lipid levels and genetic tests. This is the most cost-effective strategy performed in some countries. Statins are the first-line treatment in most of the patients for LDL-C reduction. Nonetheless, many FH patients cannot attain to the normal LDL-C levels with statins consumption. For these patients several new classes of pharmacotherapy and novel strategies exist to obtain greater LDL-C reductions such as ezetimibe, colesevelam, thyroid hormone analogs, microsomal triglyceride transfer protein inhibitors, apolipoprotein B100 antisense and PCSK9-specific monoclonal antibodies. In this article we review familial hypercholesterolemia, its diagnostic methods and genetic tests, new pharmacotherapies and novel strategies in the management of familial hypercholesterolemia.

Keywords: Diagnosis, Familial hypercholesterolemia, LDL receptor, Treatment

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