Jokiniitty Antti, Eskola Markku, Metso Saara, Bogsrud Martin, Huhtala Heini, Saarela Tanja
Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Department of Internal Medicine, Tampere University Hospital, Tampere, Finland.
Front Cardiovasc Med. 2024 Jul 26;11:1433042. doi: 10.3389/fcvm.2024.1433042. eCollection 2024.
Based on Finnish -founder variations, the prevalence of familial hypercholesterolemia (FH) in Finland is estimated to be at least 1:600. Patients with FH have increased risk of premature coronary artery disease (CAD) and thus the prevalence of FH is expected to be higher in this subgroup.
To assess the prevalence of monogenic FH in a Finnish cohort of patients with premature CAD and elevated low-density lipoprotein cholesterol (LDL-C) levels.
Among 28,295 patients undergoing angiography at Heart Hospital at Tampere University Hospital between 2007 and 2017, we identified 162 patients diagnosed with premature CAD (men aged <55 years and women aged <60 years) and history of high LDL-C (≥5 mmol/L) levels without secondary causes of hypercholesterolemia. Clinical probability of FH was estimated, and genetic testing of FH was carried out in 80 patients with informed consent.
Of the 80 patients with premature CAD and history of high LDL-C levels, 70% were men; the age at diagnosis of CAD for male and female patients was 48 and 53 years, respectively. In total, 58 (73%) patients had probable ( = 54) or definite ( = 4) FH based on Dutch Lipid Clinic Network criteria. A pathogenic variant of FH was found in five (6%) patients. Prevalence of the genetically verified FH was 1:16. The FH variant was found in 75% of patients with definite FH.
The prevalence of genetically verified FH was 1:16 among patients with premature CAD and elevated LDL-C level, which is 38 times higher than the estimated prevalence of 1:600 in the general Finnish population.
基于芬兰奠基者变异，芬兰家族性高胆固醇血症（FH）的患病率估计至少为1:600。FH患者患早发性冠状动脉疾病（CAD）的风险增加，因此预计该亚组中FH的患病率更高。
评估芬兰早发性CAD且低密度脂蛋白胆固醇（LDL-C）水平升高患者队列中单一基因FH的患病率。
在2007年至2017年间于坦佩雷大学医院心脏科接受血管造影的28295例患者中，我们识别出162例被诊断为早发性CAD（男性年龄<55岁，女性年龄<60岁）且有高LDL-C（≥5 mmol/L）水平病史且无高胆固醇血症继发原因的患者。估计FH的临床概率，并在80例获得知情同意的患者中进行FH的基因检测。
在80例有早发性CAD和高LDL-C水平病史的患者中，70%为男性；男性和女性患者CAD诊断时的年龄分别为48岁和53岁。根据荷兰脂质诊所网络标准，总共58例（73%）患者可能（=54）或确诊（=4）为FH。在5例（6%）患者中发现了FH的致病变异。基因验证的FH患病率为1:16。在确诊为FH的患者中，75%发现了FH变异。
在早发性CAD且LDL-C水平升高的患者中，基因验证的FH患病率为1:16，这比芬兰普通人群估计的1:600患病率高38倍。
