Lahtinen Annukka M, Havulinna Aki S, Jula Antti, Salomaa Veikko, Kontula Kimmo
Department of Medicine, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
National Institute for Health and Welfare, Helsinki and Turku, Finland.
Atherosclerosis. 2015 Jan;238(1):64-9. doi: 10.1016/j.atherosclerosis.2014.11.015. Epub 2014 Nov 18.
This study aimed to investigate the exact prevalence of familial hypercholesterolemia (FH) in the general population, taking advantage of the fact that five low-density lipoprotein receptor (LDLR) founder mutations account for 78% of FH cases in Finland.
Five LDLR founder mutations, FH-North Karelia, FH-Helsinki, FH-Pogosta, FH-Turku, and FH-Pori, were genotyped and serum lipid levels were measured in a large collection of Finnish population cohorts (n = 28,465), including the National FINRISK Study and the Health 2000 Study. Follow-up data were obtained from national healthcare registries.
The combined prevalence of three of the five FH founder mutations (FH-North Karelia, FH-Helsinki, and FH-Pogosta) was 0.12% (95% CI 0.07-0.16%), while FH-Turku and FH-Pori were not identified in the present sample cohort. Our data suggest that the estimated total prevalence of FH in Finland is at least 0.17%. Approximately half of the 35 FH mutation carriers used lipid-lowering medication at the time of the baseline investigation. LDL cholesterol levels were on average 2 mmol/L higher in mutation carriers than in non-carriers (p < 0.001) but did not differ between FH mutation carriers with and without lipid-lowering medication. During the follow-up for 13 years, one mutation carrier encountered a probable sudden cardiac death, two mutation carriers suffered from a stroke, and one from a myocardial infarction.
In Finland, at least 1 in 600 individuals is estimated to have FH. A marked undertreatment of FH was observed in LDLR mutation carriers.
本研究旨在利用五个低密度脂蛋白受体（LDLR）始祖突变占芬兰78%的家族性高胆固醇血症（FH）病例这一事实，调查普通人群中FH的实际患病率。
对五个LDLR始祖突变（FH - 北卡累利阿、FH - 赫尔辛基、FH - 波戈斯塔、FH - 图尔库和FH - 波里）进行基因分型，并在大量芬兰人群队列（n = 28465）中测量血脂水平，包括全国FINRISK研究和健康2000研究。随访数据来自国家医疗保健登记处。
五个FH始祖突变中的三个（FH - 北卡累利阿、FH - 赫尔辛基和FH - 波戈斯塔）的合并患病率为0.12%（95%可信区间0.07 - 0.16%），而在本样本队列中未发现FH - 图尔库和FH - 波里。我们的数据表明，芬兰FH的估计总患病率至少为0.17%。在基线调查时，35名FH突变携带者中约有一半使用了降脂药物。突变携带者的低密度脂蛋白胆固醇水平平均比非携带者高2 mmol/L（p < 0.001），但在使用和未使用降脂药物的FH突变携带者之间没有差异。在13年的随访期间，一名突变携带者遭遇了可能的心脏性猝死，两名突变携带者患了中风，一名患了心肌梗死。
在芬兰，估计每600人中至少有1人患有FH。在LDLR突变携带者中观察到FH的显著治疗不足。
