Individualized Treatment for Patients With Familial Hypercholesterolemia

Abstract

Familial hypercholesterolemia (FH) is one of the most common and, therefore, important inherited disorders in preventive cardiology. This disease is mainly caused by a single pathogenic mutation in the low-density lipoprotein receptor or its associated genes. Moreover, it is correlated with a high risk of cardiovascular disease. However, the phenotype severity even in this monogenic disease significantly varies. Thus, the current study aimed to describe FH and its importance and the factors (inherited and acquired) contributing to differences in phenotype severity. Different lipid-modification therapies according to these factors can lead to individualized treatments, which are also essential in the general populations.

Coronary artery calcium among patients with heterozygous familial hypercholesterolaemia

“… 1–3 Although their risk of ASCVDs is extremely high, studies have shown that the individual risk is heterogeneous. 4 We and others have shown that many factors affect the actual individual risk of ASCVDs in patients with FH, such as age, sex, diabetes, hypertension, smoking, the presence of pathogenic variants, high-density lipoprotein (HDL) cholesterol, LDL cholesterol, and plaque load in the coronary arteries as measured by coronary computed tomography (CT). 5–9 These factors, except for the presence of pathogenic variants of FH, are also associated with ASCVDs in individuals without FH.…”

A randomized trial of genotype-guided perindopril use

“…In addition, genotype-guided oral P2Y12 inhibitor use showed no statistically significant benefit to ischemic outcomes [13]. Although there is a growing demand for genotype-guided and personalized pharmacotherapy [14], development has been limited for several reasons, including insufficient evidence of genetic association, replication, and difficulties in conducting clinical trials themselves.…”