Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry.
Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry.
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DOI：
10.1161/circgenetics.116.001381
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发表时间：
2016-06
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影响因子：
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通讯作者：
Knowles JW
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作者：
deGoma EM;Ahmad ZS;O'Brien EC;Kindt I;Shrader P;Newman CB;Pokharel Y;Baum SJ;Hemphill LC;Hudgins LC;Ahmed CD;Gidding SS;Duffy D;Neal W;Wilemon K;Roe MT;Rader DJ;Ballantyne CM;Linton MF;Duell PB;Shapiro MD;Moriarty PM;Knowles JW
在美国，家族性高胆固醇血症（FH）患者的心血管疾病负担和治疗模式仍然缺乏描述。2013年，FH基金会启动了FH登记处的意识和检测级联筛查（Cascade），以解决这一知识缺口。我们对美国11家脂质诊所的CASCADE-FH登记处登记的1295名杂合子FH成人进行了横断面分析。降脂治疗开始时的中位年龄为39岁，FH诊断时的中位年龄为47岁。36%的患者报告有冠心病，61%的患者表现出1个或更多可改变的危险因素。未经治疗的中位低密度脂蛋白胆固醇（LDL-C）为239 mg/dL。入组时，中位LDL-C为141 mg/dL；42%的患者接受了高强度他汀类药物治疗，45%的患者接受了bbb1降ldl药物治疗。在接受降ldl药物治疗的FH患者中，25%达到LDL-C <100 mg/dL， 41%达到LDL-C降低≥50%。与冠心病流行相关的因素包括糖尿病（校正优势比1.74；95%可信区间1.08-2.82）和高血压（校正优势比2.48；95%可信区间1.92-3.21）。LDL-C较未治疗水平降低≥50%的相关因素包括高强度他汀类药物的使用（7.33;1.86-28.86）和bbb1降ldl药物的使用（1.80;1.34-2.41）。在CASCADE-FH登记处，FH患者被诊断为生命晚期，尽管冠状动脉心脏病和危险因素的患病率很高，但通常不能达到足够的LDL-C降低。这些发现强调了早期诊断FH和开始降脂治疗的必要性，更一致地使用指南推荐的降脂治疗，以及对传统冠心病危险因素的综合管理。
Cardiovascular disease burden and treatment patterns among patients with familial hypercholesterolemia (FH) in the United States remain poorly described. In 2013, the FH Foundation launched the Cascade Screening for Awareness and Detection (CASCADE) of FH Registry to address this knowledge gap. We conducted a cross-sectional analysis of 1295 adults with heterozygous FH enrolled in the CASCADE-FH Registry from 11 US lipid clinics. Median age at initiation of lipid-lowering therapy was 39 years, and median age at FH diagnosis was 47 years. Prevalent coronary heart disease was reported in 36% of patients, and 61% exhibited 1 or more modifiable risk factors. Median untreated low-density lipoprotein cholesterol (LDL-C) was 239 mg/dL. At enrollment, median LDL-C was 141 mg/dL; 42% of patients were taking high-intensity statin therapy and 45% received >1 LDL-lowering medication. Among FH patients receiving LDL-lowering medication(s), 25% achieved an LDL-C <100 mg/dL and 41% achieved a ≥50% LDL-C reduction. Factors associated with prevalent coronary heart disease included diabetes mellitus (adjusted odds ratio 1.74; 95% confidence interval 1.08–2.82) and hypertension (2.48; 1.92–3.21). Factors associated with a ≥50% LDL-C reduction from untreated levels included high-intensity statin use (7.33; 1.86–28.86) and use of >1 LDL-lowering medication (1.80; 1.34–2.41). FH patients in the CASCADE-FH Registry are diagnosed late in life and often do not achieve adequate LDL-C lowering, despite a high prevalence of coronary heart disease and risk factors. These findings highlight the need for earlier diagnosis of FH and initiation of lipid-lowering therapy, more consistent use of guideline-recommended LDL-lowering therapy, and comprehensive management of traditional coronary heart disease risk factors.