Casula Manuela, Catapano Alberico L, Rossi Bernardi Luigi, Visconti Marco, Aronica Alberto
Epidemiology and Preventive Pharmacology Centre (SEFAP), Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy.
Department of Pharmacological and Biomolecular Sciences, University of Milan, Milan, Italy; IRCCS MultiMedica, Sesto S. Giovanni, Milan, Italy.
Atheroscler Suppl. 2017 Oct;29:25-30. doi: 10.1016/j.atherosclerosissup.2017.07.004.
OBJECTIVES: Familial hypercholesterolemia (FH) is the most common monogenic lipid disorder associated with premature coronary heart disease. Early cholesterol-lowering therapy could effectively reduce cardiovascular disease morbidity and mortality in these patients. However, the majority of people with FH are undiagnosed, also due to low awareness and knowledge of FH in general practice, despite the high number of contacts GPs have with most of their patients which allows a systematic and effective approach to the detection of this condition. Here, we present a simple method to improve detection and to enhance awareness of FH in primary care using GP electronic health records. METHODS: We used electronic data from the Co.S. Consortium, involving more than 600 Italian affiliated GPs. Electronic data include demographic information, laboratory test results, recorded history of vascular disease and prescription of an HMG-CoA reductase inhibitor class medication. We performed a partial assessment of the Dutch Lipid Clinic Network (DLCN) score using those data that were recorded or available. We also sought to determine the prevalence of possible FH based on age-specific LDL-cholesterol thresholds employed by the diagnostic criteria of MEDPED and the non-age adjusted cut-off point (LDL-C ≥190 mg/dL). RESULTS: Data on LDL-C were available for 162,864 subjects. Mean LDL-C levels (SD) were 124.3 (33.6) mg/dL for non-treated subjects and 106.4 (38.5) mg/dL for statin-treated subjects. The cut-off of LDL-C ≥190 mg/dL yielded a prevalence of 2.9% among non-treated subjects and of 3.5% among statin-treated patients. Using the cut-off of ≥250 mg/dL, the prevalence was 0.1% among non-treated subjects and 0.3% among statin-treated patients. Using the cut-off ≥330 mg/dL (suggesting a probable diagnosis of FH according to the DLCN score) the prevalence was 0.01% and 0.02%. According to the stratification proposed by MEDPED criteria for the general population, the age-specific LDL-cholesterol thresholds identified 0.7% among non-treated subjects and 18.5% among statin-treated patients. CONCLUSION: The diagnosis of FH is possible in general medicine and should be an integral part of the GP's activity.
目的：家族性高胆固醇血症（FH）是与早发性冠心病相关的最常见单基因脂质紊乱疾病。早期降胆固醇治疗可有效降低这些患者心血管疾病的发病率和死亡率。然而，大多数FH患者未被诊断出来，这也是由于全科医疗中对FH的认知度和了解程度较低，尽管全科医生与大多数患者有大量接触，这使得能够采用系统有效的方法来检测这种疾病。在此，我们提出一种利用全科医生电子健康记录来改善初级保健中FH检测并提高对其认知度的简单方法。 方法：我们使用了来自Co.S.联盟的电子数据，该联盟涉及600多名意大利附属全科医生。电子数据包括人口统计学信息、实验室检测结果、血管疾病记录病史以及HMG-CoA还原酶抑制剂类药物的处方。我们使用已记录或可得的数据对荷兰脂质诊所网络（DLCN）评分进行了部分评估。我们还试图根据MEDPED诊断标准采用的年龄特异性低密度脂蛋白胆固醇阈值以及未调整年龄的临界点（低密度脂蛋白胆固醇≥190mg/dL）来确定可能的FH患病率。 结果：有162,864名受试者的低密度脂蛋白胆固醇数据。未治疗受试者的平均低密度脂蛋白胆固醇水平（标准差）为124.3（33.6）mg/dL，他汀类药物治疗受试者为106.4（38.5）mg/dL。低密度脂蛋白胆固醇≥190mg/dL的临界点在未治疗受试者中的患病率为2.9%，在他汀类药物治疗患者中为3.5%。使用≥250mg/dL的临界点，未治疗受试者中的患病率为0.1%，他汀类药物治疗患者中为0.3%。使用≥330mg/dL的临界点（根据DLCN评分提示可能诊断为FH），患病率为0.01%和0.02%。根据MEDPED标准针对普通人群提出的分层，年龄特异性低密度脂蛋白胆固醇阈值在未治疗受试者中识别出0.7%，在他汀类药物治疗患者中为18.5%。 结论：在普通医学中可以诊断FH，并且应该成为全科医生工作的一个组成部分。
Atheroscler Suppl. 2017-10
J Atheroscler Thromb. 2018-1-19
Atheroscler Suppl. 2019-12
Curr Atheroscler Rep. 2024-11
Front Med (Lausanne). 2022-10-12
Curr Cardiol Rep. 2022-10
Int J Mol Sci. 2022-7-29
Cochrane Database Syst Rev. 2021-10-7
J Am Heart Assoc. 2019-12-17
Front Pharmacol. 2018-7-12
Zotero 插件