講演情報
[O30-1]早期冠動脈疾患患者における遺伝学的に確定した家族性コレステロール血症の頻度
○勝俣 良紀1, 三山 寛司2, 佐藤 和毅1, 福田 恵一2 (1.慶應義塾大学 医学部 スポーツ医学総合センター, 2.慶應義塾大学 医学部 循環器内科)
Background: Definitive diagnosis of familial hypercholesterolemia (FH) is paramount for the risk management of patients and their relatives. This study aimed to investigate the frequency of gene variants contributing to low-density lipoprotein cholesterol (LDL-C) metabolism and their clinical relevance in patients with early-onset coronary artery disease (EOCAD). Methods: Among 63 consecutive patients with EOCAD (men ＜55 years or women ＜65 years) who underwent percutaneous coronary intervention from 2013 to 2019 at Keio University Hospital, 52 consented to participate in the retrospective study. Targeted sequencing of LDLR, PCSK9, APOB, and LDLRAP1 was performed. Results: Of 52 included patients (42 men; mean age: 50±6 years), two (3.8%; LDLR [n=1] and APOB [n=1]) had a pathogenic mutation and two (3.8%; LDLR [n=1] and PCSK9 [n=1]) had variants of uncertain significance. Patients with and without variants did not differ in terms of age or sex; however, those with variants showed a lower prevalence of diabetes mellitus and higher incidence of three-vessel disease than those without variants. Among patients with variants, none had a family history of EOCAD or physical findings of FH. Those with variants showed comparable baseline LDL-C levels and post-treatment changes compared with wild-type patients. Conclusions: Approximately 7.7% of patients with EOCAD had gene variants related to LDL-C metabolism; there were no obvious indicators in patients’ background or clinical course to diagnose FH.