[Heterozygous familial hypercholesterolemia]

Heterozygous familial hypercholesterolemia (HeFH) is an autosomal co-dominant inherited disease associated with increased risk of early cardiovascular disease. Plasma low-density lipoprotein concentrations of the affected individuals are 2 to 3 times higher than the normal population. The prevalence of the HeFH is 1/500 and only 20% of the cases are diagnosed. A minority of the diagnosed patients (16%) are able to reach treatment. Early identification of the patients with HeFH enables exact treatment and prevention of the premature coronary artery disease. So, screening of the relatives of the index cases is essential. HeFH is diagnosed by the use of clinical criteria like family history, physical examination, and cholesterol levels. Mutation analysis may provide an accurate diagnosis in suspicious cases. Treatment strategies mostly aim to provide a reduction of low-density cholesterol levels of >50% from baseline. First-line treatment is statins. However, most of the patients with HeFH do not achieve target cholesterol levels with maximum tolerated doses of statins. Combinations of statins with ezetimibe, niacin or bile acid sequestrants have limited value. New classes of drugs for the treatment of hypercholesterolemia include microsomal triglyceride transfer protein inhibitors, apolipoprotein B synthesis inhibitors, and pro-protein convertase subtilisin/kexin 9 inhibitors. This review aims to discuss the updated information regarding the diagnosis and treatment of HeFH.