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在资源匮乏的环境中,基于医护人员的机会性筛查家族性高胆固醇血症。

Healthcare worker-based opportunistic screening for familial hypercholesterolemia in a low-resource setting.

机构信息

Department of Biochemistry, RUHS College of Medical Sciences, Rajasthan University of Health Sciences, Jaipur, India.

Department of Preventive Cardiology, Eternal Heart Care Centre & Research Institute, Jaipur, India.

出版信息

PLoS One. 2022 Jun 9;17(6):e0269605. doi: 10.1371/journal.pone.0269605. eCollection 2022.

Abstract

BACKGROUND & OBJECTIVE: Heterozygous familial hypercholesterolemia (FHeH) is important risk factor for premature coronary artery disease (CAD). Strategies for its diagnosis and prevalence have not been well studied in India. We performed healthcare worker-based opportunistic screening to assess feasibility for determining its prevalence.

METHODS

A healthcare worker was trained in use of Dutch Lipid Clinic Network (DLCN) criteria for diagnosis of FHeH. Successive eligible individuals (n = 3000 of 3450 screened) presenting to biochemistry laboratories of two hospitals for blood lipid measurements were evaluated for FHeH. Cascade screening or genetic studies were not performed. Descriptive statistics are reported.

RESULTS

We included 2549 participants (men 1870, women 679) not on statin therapy. Health worker screened 25-30 individuals/day in 6-10 minutes each. The mean age was 46.2±11y. Variables of DLCN criteria were more in women vs men: family history 51.1 vs 35.6%, past CAD 48.2 vs 20.1%, arcus cornealis 1.1 vs 0.3%, tendon xanthoma 0.3 vs 0.1%, and LDL cholesterol 190-249 mg/dl in 8.5 vs 2.4%, 250-329 mg/dl in 0.7 vs 0% and ≥330 mg/dl in 0.3 vs 0% (p<0.01). Definite FHeH (DLCN score >8) was in 15 (0.59%, frequency 1:170) and probable FHeH (score 6-8) in 87 (3.4%, frequency 1:29). The prevalence was significantly greater in women, age <50y and in those with hypertension, diabetes and known CAD.

CONCLUSIONS

Healthcare worker-led opportunistic screening for diagnosis of FHeH using DLCN criteria is feasible in low-resource settings. The results show significant prevalence of clinically detected definite and probable FHeH in the population studied.

摘要

背景与目的

杂合子家族性高胆固醇血症(FHeH)是导致早发性冠心病(CAD)的重要危险因素。在印度,尚未对其诊断和患病率的策略进行充分研究。我们进行了以医疗保健工作者为基础的机会性筛查,以评估确定其患病率的可行性。

方法

培训一名医疗保健工作者使用荷兰血脂诊所网络(DLCN)标准诊断 FHeH。对连续符合条件的(从 3450 名筛查者中筛选出 3000 名)出现在两家医院生物化学实验室进行血脂测量的个体进行 FHeH 评估。未进行级联筛查或基因研究。报告描述性统计数据。

结果

我们纳入了 2549 名未接受他汀类药物治疗的参与者(男性 1870 名,女性 679 名)。卫生工作者每天筛查 25-30 人,每人用时 6-10 分钟。平均年龄为 46.2±11 岁。与男性相比,DLCN 标准中的变量在女性中更为常见:家族史 51.1%比 35.6%,既往 CAD 48.2%比 20.1%,角膜弓 1.1%比 0.3%,肌腱黄色瘤 0.3%比 0.1%,LDL 胆固醇 190-249mg/dl 占 8.5%比 2.4%,250-329mg/dl 占 0.7%比 0%,≥330mg/dl 占 0.3%比 0%(p<0.01)。明确的 FHeH(DLCN 评分>8)为 15 例(0.59%,频率为 1:170),可能的 FHeH(评分 6-8)为 87 例(3.4%,频率为 1:29)。在女性、年龄<50 岁以及患有高血压、糖尿病和已知 CAD 的人群中,患病率显著更高。

结论

使用 DLCN 标准以医疗保健工作者为基础的机会性筛查来诊断 FHeH 在资源有限的环境中是可行的。研究结果表明,在所研究的人群中,临床上发现的明确和可能的 FHeH 患病率显著。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/aaad/9182245/0698a2301119/pone.0269605.g001.jpg

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