J Lipid Atheroscler.  2022 Jan;11(1):39-54. 10.12997/jla.2022.11.1.39.

Individualized Treatment for Patients With Familial Hypercholesterolemia

  • 1Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan


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.


Hyperlipoproteinemia type II; LDL receptors; Cardiovascular diseases
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