Abstract

Familial hypercholesterolemia (FH) is a genetic disease that is not well known or diagnosed in Korea. This disease is associated with persistently high levels of lowdensity lipoprotein cholesterol (LDL-C), which increase the risk of coronary artery disease at a young age. Therefore, early diagnosis and treatment are important; however, there are no global consensus diagnostic criteria. In Korea, the Dutch Lipid Clinic Network diagnostic criteria, and the Simon Broome diagnostic criteria were used for diagnosis of FH according to the agreement announced at the Korean Society of Lipid and Atherosclerosis (KSoLA) in 2022. Recently, the absence of coronary artery calcification has been considered a good prognostic factor, even among patients with very high LDL-C levels who are considered to be at high risk for atherosclerotic cardiovascular disease. We describe throughout this paper the diagnosis and treatment of FH in a young male without coronary artery calcification.