Tada Hayato, Kojima Nobuko, Yamagami Kan, Nomura Akihiro, Nohara Atsushi, Usui Soichiro, Sakata Kenji, Hayashi Kenshi, Fujino Noboru, Takamura Masayuki, Kawashiri Masa-Aki
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, Japan.
Department of Clinical Genetics, Ishikawa Prefectural Central Hospital, Kanazawa, Japan.
JACC Asia. 2023 Jan 31;3(1):152-160. doi: 10.1016/j.jacasi.2022.10.012. eCollection 2023 Feb.
Pathogenic mutations are associated with poor outcomes in patients with familial hypercholesterolemia (FH). However, data on the effects of a healthy lifestyle on FH phenotypes are limited.
The authors investigated the interaction between a healthy lifestyle and FH mutation with prognosis in patients with FH.
We investigated the associations of the interaction between genotypes and lifestyle, with the occurrence of major adverse cardiac events (MACE), such as cardiovascular-related mortality, myocardial infarction, unstable angina, and coronary artery revascularization, in patients with FH. We assessed their lifestyle based on 4 questionnaires (healthy dietary pattern, regular exercise, not smoking, and absence of obesity). The Cox proportional hazards model was used to assess the risk for MACE.
The median follow-up duration was 12.6 (IQR: 9.5-17.9) years. During the follow-up duration, 179 MACE were observed. Independent of classic risk factors, FH mutation and lifestyle score were significantly associated with MACE (HR: 2.73; 95% CI: 1.03-4.43; 0.02; and HR: 0.69, 95% CI: 0.40-0.98, 0.033, respectively). The estimated risk of coronary artery disease by 75 years of age varied according to lifestyle, ranging from 21.0% among noncarriers with a favorable lifestyle to 32.1% among noncarriers with an unfavorable lifestyle and ranging from 29.0% among carriers with a favorable lifestyle to 55.4% among carriers with an unfavorable lifestyle.
A healthy lifestyle was associated with reduced risk for MACE among patients with FH with or without genetic diagnosis.
致病性突变与家族性高胆固醇血症（FH）患者的不良预后相关。然而，关于健康生活方式对FH表型影响的数据有限。
作者研究了健康生活方式与FH突变之间的相互作用对FH患者预后的影响。
我们调查了FH患者的基因型与生活方式之间的相互作用与主要不良心脏事件（MACE）发生情况的关联，MACE包括心血管相关死亡、心肌梗死、不稳定型心绞痛和冠状动脉血运重建。我们根据4份问卷（健康饮食模式、规律运动、不吸烟和无肥胖）评估他们的生活方式。采用Cox比例风险模型评估MACE风险。
中位随访时间为12.6（四分位间距：9.5 - 17.9）年。随访期间，观察到179例MACE。独立于经典危险因素，FH突变和生活方式评分与MACE显著相关（风险比：2.73；95%置信区间：1.03 - 4.43；P = 0.02；以及风险比：0.69，95%置信区间：0.40 - 0.98，P = 0.033）。75岁时冠状动脉疾病的估计风险因生活方式而异，从生活方式良好的非携带者中的21.0%到生活方式不良的非携带者中的32.1%，以及从生活方式良好的携带者中的29.0%到生活方式不良的携带者中的55.4%。
无论是否进行基因诊断，健康的生活方式都与FH患者发生MACE的风险降低相关。
