Mundal Liv, Retterstøl Kjetil
aThe Lipid Clinic, Oslo University Hospital bDepartment of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.
Curr Opin Lipidol. 2016 Aug;27(4):388-97. doi: 10.1097/MOL.0000000000000300.
More than 25 million are expected to have familial hypercholesterolemia worldwide. The risk of cardiovascular disease (CVD) in familial hypercholesterolemia is not clear and register studies represent a valuable tool to get such data, which will be discussed in the present paper.
A systematic review of current familial hypercholesterolemia studies, by use of National familial hypercholesterolemia registries was performed from 1980 to 2016. This review shows that familial hypercholesterolemia patients have a high prevalence of CVD also in the time period after statins became available. The patient group does not reach recommended target values for lipids, and have a significantly higher CVD mortality as compared with the general population according to age and sex.
The review underscores the importance of establishing National familial hypercholesterolemia registries with complete datasets on familial hypercholesterolemia patients to improve early diagnostics, therapeutics and long-term follow-up to prevent the premature CVD events and deaths in this patient group.
预计全球超过2500万人患有家族性高胆固醇血症。家族性高胆固醇血症患者发生心血管疾病（CVD）的风险尚不清楚，登记研究是获取此类数据的宝贵工具，本文将对此进行讨论。
对1980年至2016年期间利用国家家族性高胆固醇血症登记处进行的当前家族性高胆固醇血症研究进行了系统评价。该评价表明，在他汀类药物可用后的时间段内，家族性高胆固醇血症患者的CVD患病率也很高。该患者群体未达到推荐的血脂目标值，根据年龄和性别，其CVD死亡率显著高于普通人群。
该综述强调了建立国家家族性高胆固醇血症登记处的重要性，该登记处应包含家族性高胆固醇血症患者的完整数据集，以改善早期诊断、治疗和长期随访，预防该患者群体过早发生CVD事件和死亡。
