Chemaly P, Nallet O, Delarche N, Legagneur C, Boulestreau R, Reibel I, Palette C, Grenier A, Courtade H, Beaune G, Belle L, Georges J-L
Hôpital André-Mignot, centre hospitalier de Versailles, 78157 Le Chesnay, France.
Groupe hospitalier intercommunal Le Raincy-Montfermeil, 93370 Montfertmeil, France; Groupe lipides du collège national des cardiologues des hôpitaux, 75012 Paris, France.
Ann Cardiol Angeiol (Paris). 2018 Nov;67(5):300-309. doi: 10.1016/j.ancard.2018.08.011. Epub 2018 Oct 2.
Familial hypercholesterolemia (FH) is a frequent genetic disorder that leads to premature atherosclerosis and coronary artery disease. However, knowledge of FH by cardiologists is weak, and FH remains underdiagnosed in France. FH should be suspected when low-density lipoprotein cholesterol (LDLc) levels exceed 1.9g/L (4.9mmol/L) without lipid lowering therapy.
This multicenter retro- and prospective observational study aimed at estimating the prevalence of high LDLc levels in patients admitted in coronary care units, and the impact for the personal and familial follow-up for lipid status.
Retrospective analysis of all plasma lipid measurements performed at admission in coronary care unit of 4 hospitals in 2017. Retrospective analyses of demographic, clinical, and coronary data of consecutive patients with LDLc levels≥1.9g/L. Prospective 1 year follow-up focused on lipid levels, treatments, and personal and familial screening for FH.
Lipid measurement has been performed in 2172 consecutive patients, and 108 (5%) had LDLc level≥1.9g/L (mean age 64±14 years, men 51%). The primary cause of the hospitalisation was acute coronary syndrome (78%), and 22% of patients were free off coronary artery disease. Lipid lowering therapy was present in 9% of patients at admission, and 84% at discharge, with high statins regimen. At 1-year follow-up, control of LDLc level was not performed in 20% of patients, and statin dose was decreased (36%) or withdrawn (7%) in 43%. Lipid measurement has been performed in at least one first degree relative in 37% of patients, and genetic exploration has been done for 3 patients.
Screening of FH in CCU should be routinely performed using the Dutch Score when LDLc is above 1.9g/L. Individual and familial management of patients at high risk for FH screened in CCU should be optimized, both for diagnosis and therapeutic purposes.
家族性高胆固醇血症（FH）是一种常见的遗传性疾病，可导致早发性动脉粥样硬化和冠状动脉疾病。然而，心脏病专家对FH的了解不足，在法国FH仍未得到充分诊断。在未进行降脂治疗的情况下，当低密度脂蛋白胆固醇（LDLc）水平超过1.9g/L（4.9mmol/L）时，应怀疑FH。
这项多中心回顾性和前瞻性观察性研究旨在估计冠心病监护病房收治患者中高LDLc水平的患病率，以及对个人和家族血脂状况随访的影响。
对2017年4家医院冠心病监护病房入院时进行的所有血浆脂质测量进行回顾性分析。对连续LDLc水平≥1.9g/L患者的人口统计学、临床和冠状动脉数据进行回顾性分析。前瞻性1年随访重点关注血脂水平、治疗以及FH的个人和家族筛查。
对2172例连续患者进行了脂质测量，其中108例（5%）LDLc水平≥1.9g/L（平均年龄64±14岁，男性占51%）。住院的主要原因是急性冠状动脉综合征（78%），22%的患者无冠状动脉疾病。入院时9%的患者接受降脂治疗，出院时84%的患者接受降脂治疗，他汀类药物使用剂量较高。在1年随访时，20%的患者未控制LDLc水平，43%的患者他汀类药物剂量减少（36%）或停用（7%）。37%的患者至少对一名一级亲属进行了脂质测量，3例患者进行了基因检测。
当LDLc高于1.9g/L时，应使用荷兰评分法在冠心病监护病房常规筛查FH。对于在冠心病监护病房筛查出的FH高危患者，应优化其个人和家族管理，包括诊断和治疗。
