A Novel Modified System of Simplified Chinese Criteria for Familial Hypercholesterolemia (SCCFH)
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ORIGINAL RESEARCH ARTICLE
A Novel Modified System of Simplified Chinese Criteria for Familial Hypercholesterolemia (SCCFH) Ye‑Xuan Cao1 · Di Sun1 · Hui‑Hui Liu1 · Jing‑Lu Jin1 · Sha Li1 · Yuan‑Lin Guo1 · Na‑Qiong Wu1 · Cheng‑Gang Zhu1 · Ying Gao1 · Qiu‑Ting Dong1 · Geng Liu1 · Qian Dong1 · Jian‑Jun Li1
© Springer Nature Switzerland AG 2019
Abstract Background and Objective The most significant clinical implication of familial hypercholesterolemia (FH) is early-onset coronary artery disease (CAD), highlighting the importance of a definitive diagnosis being available. Unfortunately, the existing algorithms are complex and it is often difficult to obtain information on the patient’s family history. Hence, we aimed to establish a novel system of Simplified Chinese Criteria for FH (SCCFH). Methods We recruited 12,921 participants undergoing routine blood collection from November 2011 to June 2018. Clinical characteristics, laboratory examination, and genetic testing were obtained. FH was diagnosed based on the Simon Broome (SB) criteria, Dutch Lipid Clinic Network (DLCN) criteria, and SCCFH. The sensitivity, specificity, and agreement of SCCFH to these existing criteria were investigated. Results Of 12,921 participants reviewed, the prevalence of definite FH was 223 (1.73%), 202 (1.56%), and 205 (1.59%) based on the DLCN, SB, and SCCFH approaches, respectively. Compared with the DLCN and SB criteria, the SCCFH showed high sensitivity (91.9% and 100%), high specificity (100% and 99.9%), and good agreement (κ = 0.958 and 0.993). Similar results were found in several relevant clinical subgroups. Conclusions The SCCFH system is comparable to the existing criteria with high levels of sensitivity and specificity, and is easier to use clinically. Further larger prospective studies are needed to evaluate the feasibility and reliability of this system.
1 Introduction As one of the most common autosomal-dominant genetic diseases, familial hypercholesterolemia (FH) is detected in all racial and ethnic groups, with an estimated prevalence of 1/200–1/500 [1]. FH is characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C), which can lead to systemic arteriosclerotic cardiovascular disease (ASCVD), including coronary artery disease (CAD). The risk of CAD is six times higher in FH patients with LDL-C ≥ 5 mmol/L and 22 times higher in FH patients Electronic supplementary material The online version of this article (https://doi.org/10.1007/s40291-019-00405-1) contains supplementary material, which is available to authorized users. * Jian‑Jun Li [email protected] 1
Division of Dyslipidemia, State Key Laboratory of Cardiovascular Disease, Fu Wai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College, BeiLiShi Road 167, Beijing 100037, China
Key Points Familial hypercholesterolemia (FH) is underdiagnosed and undertreated, and benefits from early diagnosis. The need to facilitate diagnosis require a simplified approach in China. The Si
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