家族性高胆固醇血症：一种严重被低估的心血管风险

[Familial hypercholesterolemia: A largely underestimated cardiovascular risk].

作者信息

Ferrières J, Bruckert É, Béliard S, Rabès J-P, Farnier M, Krempf M, Cariou B, Danchin N

机构信息

Fédération de cardiologie, CHU Rangueil, TSA 50032, 31059 Toulouse cedex 9, France.

Endocrinologie, métabolisme et prévention des maladies cardiovasculaires, hôpital Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75013 Pitié-Salpêtrière, France.

出版信息

Ann Cardiol Angeiol (Paris). 2018 Feb;67(1):1-8. doi: 10.1016/j.ancard.2017.04.015. Epub 2017 May 31.

DOI:10.1016/j.ancard.2017.04.015

PMID:28576280

Abstract

BACKGROUND

Familial hypercholesterolemia is a monogenic autosomal dominant dyslipidemia characterized by a permanent and isolated increase of cholesterol carried by low-density lipoproteins. The prevalence of its heterozygous form is estimated between 1/500 and 1/250, and in the absence of specific treatment, this form is responsible for an increase by a factor of 13 of the risk of premature coronary artery disease compared to patients non-affected by the disease.

OBJECTIVES

To perform an inventory of the knowledge of heterozygous familial hypercholesterolemia in France for physicians involved in the management of the disease.

METHODS

A survey was conducted (by phone and internet) among a representative sample of 495 physicians (cardiologists, endocrinologists/diabetologists, gynecologists, general practitioners) who, in parallel, completed 579 patient records.

RESULTS

Thirty-two percent (95% CI [27.8; 36.2]) of physicians reported the difference between polygenic hypercholesterolemia and familial hypercholesterolemia. The presence of tendinous xanthomas, a key element of diagnosis, was spontaneously mentioned by 44% (95% CI [34; 54.2]) of cardiologists. Six percent (95% CI [2.2; 12.6]) of them gave a correct estimate of the prevalence of familial hypercholesterolemia. The likelihood of transmission of heterozygous familial hypercholesterolemia, when one parent is affected, was known for 59% (95% CI [48.7; 68.7]) of surveyed cardiologists. A cascade screening was performed systematically by 4% (95% CI [1.1; 9.9]) of them. Eighteen percent (95% CI [11; 26.9]) of cardiologists gave an accurate estimation of cardiovascular risk of heterozygous familial hypercholesterolemia. Fifty-seven percent (95% CI [46.7; 66.8]) of cardiologists admitted being misinformed about the heterozygous familial hypercholesterolemia and 83% (95% CI [74.1; 89.7]) expressed a need for information about this disease.

CONCLUSION

The lack of knowledge of heterozygous familial hypercholesterolemia and its associated cardiovascular risk is probably the cause of a diagnostic default leading to inappropriate management of this disease.

摘要

背景

家族性高胆固醇血症是一种单基因常染色体显性血脂异常疾病，其特征是低密度脂蛋白携带的胆固醇持续且单独升高。据估计，其杂合子形式的患病率在1/500至1/250之间，在缺乏特异性治疗的情况下，与未患该疾病的患者相比，这种形式会使早发性冠状动脉疾病的风险增加13倍。

目的

对法国参与该疾病管理的医生关于杂合子家族性高胆固醇血症的知识进行调查。

方法

对495名医生（心脏病专家、内分泌科医生/糖尿病专家、妇科医生、全科医生）的代表性样本进行了一项调查（通过电话和互联网），这些医生同时完成了579份患者记录。

结果

32%（95%可信区间[27.8；36.2]）的医生报告了多基因高胆固醇血症和家族性高胆固醇血症之间的差异。44%（95%可信区间[34；54.2]）的心脏病专家自发提到了腱黄瘤的存在，这是诊断的关键要素。其中6%（95%可信区间[2.2；12.6]）对家族性高胆固醇血症的患病率给出了正确估计。在受调查的心脏病专家中，59%（95%可信区间[48.7；68.7]）了解当父母一方患病时杂合子家族性高胆固醇血症的遗传可能性。其中4%（95%可信区间[1.1；9.9]）系统性地进行了级联筛查。18%（95%可信区间[11；26.9]）的心脏病专家对杂合子家族性高胆固醇血症的心血管风险给出了准确估计。57%（95%可信区间[46.7；66.8]）的心脏病专家承认对杂合子家族性高胆固醇血症了解有误，83%（95%可信区间[74.1；89.7]）表示需要了解有关该疾病的信息。