PDF(Pubmed)
Abstract：
OBJECTIVE: Patients with familial hypercholesterolaemia (FH) are genetically burdened by a lifelong elevation of the low-density lipoprotein cholesterol (LDL-C) level, putting them at a very high risk of premature ischaemic heart disease (IHD). This study aims to assess the prevalence of FH among patients admitted for IHD and the preventive treatment status before admission.
METHODS: Observational, retrospective, register-based study.
METHODS: Individuals discharged with a diagnosis of IHD were enrolled consecutively throughout 2012-2016 from the cardiac care units of two hospitals in Copenhagen.
METHODS: 4223 individuals were discharged during the period. Inclusion criteria for further investigation were the availability of one measurement of LDL-C at the time of admission. In total, 2797 individuals were included for further investigation. There were no exclusion criteria.
METHODS: The primary objective has been to determine the prevalence of FH in the population. The secondary objective has been to determine the use of lipid-lowering therapy and to which extend the individuals reach their treatment goal.
RESULTS: Among the 2797 consecutive patients evaluated, the prevalence of potential FH was 7.7% (1: 13) and 6.8% (1:15) had probably or definite FH. The prevalence of FH was age-dependent: Among the 680 patients (24.3%) with premature IHD (men <55 years/women <60 years), 136 patients (20.0%) had potential FH and 21 (3.1%) had probable/definite FH. None were diagnosed and almost none attained their treatment goal.
CONCLUSIONS: There is still a massive lack of recognition of FH in patients admitted to a cardiac care unit with a diagnosis of IHD. Despite a measured high LDL-C, the diagnosis was not made for any patients not even in patients who were admitted at an early age or had a previous cardiovascular event.
METHODS: Observational, retrospective, register-based study.
METHODS: Individuals discharged with a diagnosis of IHD were enrolled consecutively throughout 2012-2016 from the cardiac care units of two hospitals in Copenhagen.
METHODS: 4223 individuals were discharged during the period. Inclusion criteria for further investigation were the availability of one measurement of LDL-C at the time of admission. In total, 2797 individuals were included for further investigation. There were no exclusion criteria.
METHODS: The primary objective has been to determine the prevalence of FH in the population. The secondary objective has been to determine the use of lipid-lowering therapy and to which extend the individuals reach their treatment goal.
RESULTS: Among the 2797 consecutive patients evaluated, the prevalence of potential FH was 7.7% (1: 13) and 6.8% (1:15) had probably or definite FH. The prevalence of FH was age-dependent: Among the 680 patients (24.3%) with premature IHD (men <55 years/women <60 years), 136 patients (20.0%) had potential FH and 21 (3.1%) had probable/definite FH. None were diagnosed and almost none attained their treatment goal.
CONCLUSIONS: There is still a massive lack of recognition of FH in patients admitted to a cardiac care unit with a diagnosis of IHD. Despite a measured high LDL-C, the diagnosis was not made for any patients not even in patients who were admitted at an early age or had a previous cardiovascular event.
摘要：
目的：家族性高胆固醇血症（FH）患者的遗传负担是由低密度脂蛋白胆固醇（LDL-C）水平终身升高造成的。使他们处于早期缺血性心脏病（IHD）的高风险。这项研究旨在评估因IHD入院的患者中FH的患病率以及入院前的预防性治疗状态。
方法：观察性，回顾性,基于注册的研究。
方法：2012-2016年期间，在哥本哈根两家医院的心脏护理单位连续招募诊断为IHD的出院患者。
方法：在此期间有4223人出院。进一步研究的纳入标准是在入院时可进行一次LDL-C测量。总的来说,2797人被纳入进一步调查。没有排除标准。
方法：主要目标是确定人群中FH的患病率。次要目标是确定降脂治疗的使用以及个体达到其治疗目标的程度。
结果：在评估的2797名连续患者中，潜在FH的患病率为7.7％（1:13）和6.8％（1:15）可能或明确的FH。FH的患病率与年龄有关：在早期IHD的680名患者（24.3％）中（男性<55岁/女性<60岁），136例（20.0%）有潜在FH，21例（3.1%）有可能/明确的FH。没有人被诊断出，几乎没有人达到他们的治疗目标。
结论：心脏监护病房确诊为IHD的患者对FH的认识仍然非常缺乏。尽管测量的LDL-C很高，没有对任何患者做出诊断,即使是在较早年龄入院或既往有心血管事件的患者也没有做出诊断.
方法：观察性，回顾性,基于注册的研究。
方法：2012-2016年期间，在哥本哈根两家医院的心脏护理单位连续招募诊断为IHD的出院患者。
方法：在此期间有4223人出院。进一步研究的纳入标准是在入院时可进行一次LDL-C测量。总的来说,2797人被纳入进一步调查。没有排除标准。
方法：主要目标是确定人群中FH的患病率。次要目标是确定降脂治疗的使用以及个体达到其治疗目标的程度。
结果：在评估的2797名连续患者中，潜在FH的患病率为7.7％（1:13）和6.8％（1:15）可能或明确的FH。FH的患病率与年龄有关：在早期IHD的680名患者（24.3％）中（男性<55岁/女性<60岁），136例（20.0%）有潜在FH，21例（3.1%）有可能/明确的FH。没有人被诊断出，几乎没有人达到他们的治疗目标。
结论：心脏监护病房确诊为IHD的患者对FH的认识仍然非常缺乏。尽管测量的LDL-C很高，没有对任何患者做出诊断,即使是在较早年龄入院或既往有心血管事件的患者也没有做出诊断.
