■基于芬兰LDLR创始人的变体,在芬兰,家族性高胆固醇血症(FH)的患病率估计至少为1:600.FH患者早发冠状动脉疾病(CAD)的风险增加,因此FH的患病率预计在该亚组中更高。
■旨在评估芬兰队列中早熟CAD和低密度脂蛋白胆固醇(LDL-C)水平升高患者单基因FH的患病率。
■在2007年至2017年间在坦佩雷大学医院心脏医院接受血管造影的28,295例患者中,我们确定了162例诊断为早发CAD(男性年龄<55岁,女性年龄<60岁)和高LDL-C(≥5mmol/L)水平的病史,而没有高胆固醇血症的次要原因。估计了FH的临床概率,在知情同意的情况下,对80例患者进行了FH基因检测。
■在80例早发CAD和高LDL-C病史的患者中,70%为男性;男性和女性患者诊断为CAD的年龄分别为48岁和53岁,分别。总的来说,根据荷兰脂质临床网络标准,58例(73%)患者有可能(n=54)或明确(n=4)的FH。在五名(6%)患者中发现了FH的致病变体。经基因验证的FH的患病率为1:16。在75%的明确FH患者中发现了FH变异。
■在早发CAD和LDL-C水平升高的患者中,基因验证的FH的患病率为1:16,这是在一般芬兰人口中1:600的估计患病率的38倍。
UNASSIGNED: Based on Finnish LDLR-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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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 (n = 54) or definite (n = 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.
UNASSIGNED: 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.