Abstract：
OBJECTIVE: Three physical signs, namely tendon xanthomas, corneal arcus and xanthelasma, have been associated with heterozygous familial hypercholesterolemia (heFH). The prevalence and clinical significance of these signs are not well established among contemporary heFH individuals. This study explored the frequency as well as the association of these physical signs with prevalent atherosclerotic cardiovascular disease (ASCVD) in heFH individuals.
METHODS: Data from the Hellenic Familial Hypercholesterolemia Registry were applied for this analysis. The diagnosis of heFH was based on the Dutch Lipid Clinic Network Score. Multivariate logistic regression analysis was conducted to examine the association of heFH-related physical signs with prevalent ASCVD.
RESULTS: Adult patients ( n = 2156, mean age 50 ± 15 years, 47.7% women) were included in this analysis. Among them, 14.5% had at least one heFH-related physical sign present. The prevalence of corneal arcus before the age of 45 years was 6.6%, tendon xanthomas 5.3%, and xanthelasmas 5.8%. Among physical signs, only the presence of corneal arcus before the age of 45 years was independently associated with the presence of premature coronary artery disease (CAD). No association of any physical sign with total CAD, stroke or peripheral artery disease was found. Patients with physical signs were more likely to receive higher intensity statin therapy and dual lipid-lowering therapy, but only a minority reached optimal lipid targets.
CONCLUSIONS: The prevalence of physical signs is relatively low in contemporary heFH patients. The presence of corneal arcus before the age of 45 years is independently associated with premature CAD.
METHODS: Data from the Hellenic Familial Hypercholesterolemia Registry were applied for this analysis. The diagnosis of heFH was based on the Dutch Lipid Clinic Network Score. Multivariate logistic regression analysis was conducted to examine the association of heFH-related physical signs with prevalent ASCVD.
RESULTS: Adult patients ( n = 2156, mean age 50 ± 15 years, 47.7% women) were included in this analysis. Among them, 14.5% had at least one heFH-related physical sign present. The prevalence of corneal arcus before the age of 45 years was 6.6%, tendon xanthomas 5.3%, and xanthelasmas 5.8%. Among physical signs, only the presence of corneal arcus before the age of 45 years was independently associated with the presence of premature coronary artery disease (CAD). No association of any physical sign with total CAD, stroke or peripheral artery disease was found. Patients with physical signs were more likely to receive higher intensity statin therapy and dual lipid-lowering therapy, but only a minority reached optimal lipid targets.
CONCLUSIONS: The prevalence of physical signs is relatively low in contemporary heFH patients. The presence of corneal arcus before the age of 45 years is independently associated with premature CAD.
摘要：
目标：三个体征，即肌腱黄瘤，角膜弧和黄体瘤，与杂合子家族性高胆固醇血症（heFH）有关。在当代heFH个体中，这些体征的患病率和临床意义尚不明确。这项研究探讨了这些体征与heFH个体中普遍存在的动脉粥样硬化性心血管疾病（ASCVD）的频率以及相关性。
方法：将来自希腊家族性高胆固醇血症注册的数据用于此分析。heFH的诊断基于荷兰脂质诊所网络评分。进行了多因素logistic回归分析，以检查HEFH相关体征与普遍存在的ASCVD的相关性。
结果：成年患者（n=2156，平均年龄50±15岁，47.7％的女性）被包括在此分析中。其中,14.5％的人至少有一个与HEFH相关的体征。45岁前角膜弓的患病率为6.6%,肌腱黄色瘤5.3%，和黄色瘤5.8%。在身体体征中，仅在45岁之前出现角膜弧与早发冠状动脉疾病(CAD)独立相关.没有任何物理标志与总CAD的关联，发现中风或外周动脉疾病。有体征的患者更有可能接受高强度他汀类药物治疗和双重降脂治疗，但只有少数人达到了最佳的脂质目标。
结论：在当代heFH患者中，体征的患病率相对较低。45岁之前的角膜弧的存在与过早的CAD独立相关。
方法：将来自希腊家族性高胆固醇血症注册的数据用于此分析。heFH的诊断基于荷兰脂质诊所网络评分。进行了多因素logistic回归分析，以检查HEFH相关体征与普遍存在的ASCVD的相关性。
结果：成年患者（n=2156，平均年龄50±15岁，47.7％的女性）被包括在此分析中。其中,14.5％的人至少有一个与HEFH相关的体征。45岁前角膜弓的患病率为6.6%,肌腱黄色瘤5.3%，和黄色瘤5.8%。在身体体征中，仅在45岁之前出现角膜弧与早发冠状动脉疾病(CAD)独立相关.没有任何物理标志与总CAD的关联，发现中风或外周动脉疾病。有体征的患者更有可能接受高强度他汀类药物治疗和双重降脂治疗，但只有少数人达到了最佳的脂质目标。
结论：在当代heFH患者中，体征的患病率相对较低。45岁之前的角膜弧的存在与过早的CAD独立相关。
