Abstract
BACKGROUND AND PURPOSE: Familial hypercholesterolemia (FH) is a genetic disorder that can lead to coronary artery disease and heart valve disease at a young age. Carotid ultrasound is a relatively simple examination for evaluating atherosclerosis. This study aimed to clarify the differences in carotid ultrasound findings between FH and non-FH patients and to identify the characteristics of atherosclerosis in FH. SUBJECTS AND METHODS: Patients with FH or non-FH who underwent carotid ultrasound at a dyslipidemia clinic were enrolled. Background information and clinical laboratory values were extracted at the time of the initial ultrasound examination. Background factors were matched, and carotid ultrasound findings (plaque score (PS) and intima-media thickness (IMT)) were compared between the two groups. RESULTS: The FH group exhibited significantly higher levels of PS and IMT than the non-FH group. In those under 50 years of age, no significant differences in PS or IMT were observed between the FH and non-FH groups. On the other hand, in those aged 50 years or over, the FH group exhibited significantly higher levels of PS and IMT than the non-FH group. There were no significant differences in the changes and change rates in PS and IMT over time between the two groups. CONCLUSION: The importance of early diagnosis and adequate treatment of FH was suggested in FH management.