Familial Hypercholesterolemia: How Far Should We Go?

Abstract

Familial hypercholesterolemia (FH) is a common inherited disorder, yet the diagnosis methods and management are still challenging. The heterozygous FH (known as FH) is more common than the homozygous form, yet a mutation only found in only about 40% of patients with the phenotype of FH. In fact, most cases are most likely caused by polygenic aetiology with less severe clinical presentations than monogenic FH. Therefore, understanding FH is essential, so that the diagnosis methods and management, particularly the patients’ preventive measures of the patients can be improved. This review aims to describe and discuss the type of FH, including the clinical and lipid presentation, molecular pathogenesis of monogenic FH, and further discussion on how polygenic FH should be diagnosed and managed. Keywords: hypercholesterolemia, SNP, DNA testing